{"id":"W4409131032","doi":"10.4103/neurol-india.neurol-india-d-24-00093","title":"Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral Neuropathy","year":2025,"lang":"en","type":"article","venue":"Neurology India","topic":"Sexual Differentiation and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Medicine; Missense mutation; Exome sequencing; Peripheral neuropathy; Foot deformity; Gonadal dysgenesis; Exome; Exon; Genetics; Internal medicine; Mutation; Endocrinology; Surgery; Gene; Biology; Deformity","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001257907,0.001033452,0.0006045483,0.0009748334,0.001673172,0.0007722103,0.0005418783,0.00143399,0.002144188],"category_scores_gemma":[0.0009208934,0.0005250113,0.0004183857,0.0008668376,0.0008501654,0.0005467604,0.0007104449,0.001058301,0.0002534885],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006563697,"about_ca_system_score_gemma":0.0007510633,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004423732,"about_ca_topic_score_gemma":0.004509354,"domain_scores_codex":[0.9997073,0.00001899463,0.00002802618,0.0001120341,0.00004673595,0.00008695899],"domain_scores_gemma":[0.9995926,0.0001021826,0.00008522044,0.00002290914,0.00002654179,0.0001705836],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00005023557,0.00004167408,0.01298745,0.00002878223,0.0000097544,0.9817786,0.0004004241,0.00007266751,0.00308001,0.0001376346,0.0002113589,0.001201452],"study_design_scores_gemma":[0.00001502735,0.0001017977,0.0276229,0.00001399776,0.00001676076,0.9705371,0.0002397351,0.0001288008,0.0007008595,0.0001118051,0.0004993662,0.00001192531],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949712,0.0004927561,0.0004360039,0.0005358454,0.00005534067,0.00003666446,0.0001727518,0.00006223603,0.003237188],"genre_scores_gemma":[0.9983436,0.0001718964,0.0002413763,0.0002286094,0.00003821922,0.000005511985,0.00005228499,0.00001018812,0.0009084413],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004423732,"threshold_uncertainty_score":0.008795977,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00519629977025338,"score_gpt":0.2145962405025325,"score_spread":0.2093999407322791,"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."}}