Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.S516I
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SASH1

NM_015278.5:p.S516I

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

Inherited Reticulate Pigmentary Disorders.

Lin MH et al.

Genes, 2023

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

Cao L et al.

Bmc Medical Genomics, 2021

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.

Liu JW et al.

Journal of Clinical Laboratory Analysis, 2021

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

Araki Y et al.

Pigment Cell & Melanoma Research, 2021

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."