Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.S513R
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SASH1

NM_015278.5:p.S513R

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

SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage.

Lambert KA et al.

The Journal of Investigative Dermatology, 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

Solution NMR backbone assignment of the SASH1 SLy proteins associated disordered region (SPIDER).

Clements CM et al.

Biomolecular Nmr Assignments, 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

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."