Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.E509_S510insFs
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SASH1

NM_015278.5:p.E509_S510insFs

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

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

Cao L et al.

Bmc Medical Genomics, 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

A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines.

Wang J et al.

Acta Dermato-venereologica, 2017

Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.

Zhang J et al.

Clinical Genetics, 2016

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."