Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.Y551H
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SASH1

NM_015278.5:p.Y551H

Associated Papers

SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature.

Bishnoi A et al.

Pigment Cell & Melanoma Research, 2025

Dyschromatosis universalis hereditaria with SASH1 mutation improved with picosecond laser treatment.

Yuan L et al.

Skin Health and Disease, 2025

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

Wang T et al.

Frontiers in Genetics, 2025

The PER3rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria.

Chen H et al.

Journal of Molecular Medicine (berlin, Germany), 2023

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.

Cao L et al.

Bmc Medical Genomics, 2021

Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families.

Araki Y et al.

Pigment Cell & Melanoma Research, 2021

Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model.

Xu Z et al.

International Journal of Molecular Medicine, 2020

Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis.

Wu N et al.

Frontiers in Genetics, 2020

Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines.

Guo K et al.

Pigment Cell & Melanoma Research, 0

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