{"id":"W1992989994","doi":"10.1038/ng1062","title":"Mutations in SBDS are associated with Shwachman–Diamond syndrome","year":2002,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":795,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"","keywords":"Biology; Pseudogene; Genetics; Gene; Exon; Intron; Conserved sequence; Genome; Peptide sequence","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006130153625328871,"score_gpt":0.220545048834381,"score_spread":0.2144148952090522,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}