Varaico: Literature-Extracted Genetic Variants

Gene:PCED1B
Variant:p.Q184E
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PCED1B

NM_138371.3:p.Q184E

Associated Papers

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15
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