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4,299,418 works, Canadian by any of four routes.

Every filter state is a URL; the URL is the query; the query is citable via /q/⟨hash⟩. The page, the API and the export parse the same parameters.

The current cohort, streamed from the database: every work column, the machine labels, the provisional scores, and the per-row validation status. Exports are capped at 100,000 rows. Mints a permanent /q/ link for this exact query. The same filters always produce the same link, whoever asks.

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Metabolism and Genetic Disorders
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Direct Codex and Gemma labels are unvalidated and sparse. Distilled predictions cover the full frame and are also unvalidated. Choose the evidence source explicitly; absence of a direct label is never a negative label.

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The four routes compose: require the funder route and exclude affiliation to get the funder-only stratum no affiliation-based frame ever sees.

1,813 results · 1 filter active ·
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20002025
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Machine labels · sparse coverage
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An unlabeled work is unknown, not a negative. Label coverage is reported on every query.
1,813 works in the cohort · of 4,299,418page 1 of 37

Labels cover 1 of 1,813 works in this cohort. The rest are unlabeled, which is not a negative label: the label table is sparse today and grows as labeling rounds land.

Distilled predictions cover 1,813 of 1,813 works in this cohort. Predictions are machine_predicted_unvalidated teacher distillation outputs. Candidate is the union; consensus is the intersection.

affno abstractunlabeled
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Jerry Vockley, Hans C. Andersson, Kevin M. Antshel, Nancy Braverman, Barbara K. Burton, Dianne M. Frazier +4 more
2014· article· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
722
citations
affno abstractunlabeled
Neurobiology of ammonia
Vicente Felipo, Roger F. Butterworth
2002· review· en· Progress in Neurobiology· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
611
citations
affno abstractunlabeled
Phenylalanine hydroxylase deficiency
John J. Mitchell, Yannis Trakadis, Charles R. Scriver
2011· review· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
535
citations
affno abstractunlabeled
Pyridoxine dependent epilepsy and antiquitin deficiency
Sylvia Stöckler, Barbara Plecko, Sídney M. Gospe, Marion B. Coulter-Mackie, Mary Connolly, Clara van Karnebeek +8 more
2011· review· en· Molecular Genetics and Metabolism· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
304
citations
affno abstractunlabeled
Ammonia toxicity: from head to toe?
Srinivasan Dasarathy, Rajeshwar P. Mookerjee, Veronika Račkayová, Vinita Rangroo Thrane, Balasubramaniyan Vairappan, Peter Ott +1 more
2016· review· en· Metabolic Brain Disease· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrow+insufficient_payloadconsensus · none
279
citations
affno abstractunlabeled
A proposed nosology of inborn errors of metabolism
Carlos R. Ferreira, Clara van Karnebeek, Jerry Vockley, Nenad Blau
2018· article· en· Genetics in Medicine· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
270
citations
affno abstractunlabeled
A genome-wide association study of metabolic traits in human urine
Karsten Suhre, Henri Wallaschofski, Johannes Raffler, Nele Friedrich, Robin Haring, Kathrin Michael +18 more
2011· article· en· Nature Genetics· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
259
citations
afffundunlabeled
A Novel Function for Fatty Acid Translocase (FAT)/CD36
Shannon E. Campbell, Narendra N. Tandon, Gebretateos Woldegiorgis, Joost J.F.P. Luiken, Jan F. C. Glatz, Arend Bonen
2004· article· en· Journal of Biological Chemistry· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
254
citations
affno abstractunlabeled
Identifying the direct effects of ammonia on the brain
Cristina R. Bosoi, Christopher F. Rose
2008· review· en· Metabolic Brain Disease· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
251
citations
affunlabeled
CUBN Is a Gene Locus for Albuminuria
Carsten A. Böger, Ming‐Huei Chen, Adrienne Tin, Matthias Olden, Anna Köttgen, Ian H. de Boer +108 more
2011· review· en· Journal of the American Society of Nephrology· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
237
citations
affunlabeled
Recommendations for the management of tyrosinaemia type 1
Corinne De Laet, Carlo Dionisi‐Vici, James V. Leonard, Patrick McKiernan, Grant A. Mitchell, Lidia Monti +3 more
2013· review· en· Orphanet Journal of Rare Diseases· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
226
citations
affunlabeled
Tyrosinemia: A Review
Pierre A. Russo, Grant A. Mitchell, Robert M. Tanguay
2001· review· en· Pediatric and Developmental Pathology· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
223
citations
affno abstractunlabeled
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
Clara van Karnebeek, Sylvia A. Tiebout, J.M.F. Niermeijer, Bwee Tien Poll‐The, Aisha Ghani, Curtis R. Coughlin +6 more
2016· review· en· Pediatric Neurology· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrowconsensus · none
185
citations
affunlabeled
Natural history of nonketotic hyperglycinemia in 65 patients
Julie Hoover‐Fong, Siddharth Shah, Johan L.K. Van Hove, Derek A. Applegarth, Jennifer R. Toone, Ada Hamosh
2004· article· en· Neurology· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · noneconsensus · none
180
citations
affunlabeled
Drug-induced mitochondrial toxicity
Katie Chan, Nandita Shangari, Peter J. O’Brien
2005· review· en· Expert Opinion on Drug Metabolism & Toxicology· Biochemistry, Genetics and Molecular Biology
distilled prediction:candidate · metaepi_narrow+research_integrityconsensus · metaepi_narrow
170
citations

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