Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.S510C
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SASH1

NM_015278.5:p.S510C

Associated Papers

Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis.

Wang T et al.

Frontiers in Genetics, 2025

Two novel mutations in SASH1 identified in a familial and a sporadic generalized lentiginosis phenotype in Koreans.

Kim JY et al.

Clinical and Experimental Dermatology, 2023

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