Varaico: Literature-Extracted Genetic Variants

Gene:POLR3B
Variant:p.P393S
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POLR3B

NM_018082.6:p.P393S

Associated Papers

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Rojas RA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary_Table_1.xlsx › Supp_Table_1C_SOX10-gnomAD
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