Varaico: Literature-Extracted Genetic Variants

Gene:FAM83G
Variant:p.S616delFs
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FAM83G

NM_001039999.3:p.S616delFs

Associated Papers

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

Mora-Gómez M et al.

Frontiers in Medicine, 2025

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