Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.S510N
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SASH1

NM_015278.5:p.S510N

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

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

Inherited Reticulate Pigmentary Disorders.

Lin MH et al.

Genes, 2023

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

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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