Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.V1754I
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CDH23

NM_022124.6:p.V1754I

Associated Papers

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.

Patel MJ et al.

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

34230634 (PubMed )
Supplement: NIHMS1734674-supplement-Supplementary_Table_1.xlsx › _Suppl_Table_1
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