Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.S516R
Back to variants list

SASH1

NM_015278.5:p.S516R

Associated Papers

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

Bishnoi A et al.

Pigment Cell & Melanoma Research, 2025

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."