Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.T604K
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SASH1

NM_015278.5:p.T604K

Associated Papers

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

Bishnoi A et al.

Pigment Cell & Melanoma Research, 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

SASH1 interacts with TNKS2 and promotes human melanocyte stem cell maintenance.

Lambert KA et al.

Biorxiv : the Preprint Server for Biology, 2023

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."