Varaico: Literature-Extracted Genetic Variants

Gene:MYO5A
Variant:p.L116L
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MYO5A

NM_001382347.1:p.L116L

Associated Papers

Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.

Xu B et al.

Alternative Therapies in Health and Medicine, 2023

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.

Lin Y et al.

Molecular Genetics & Genomic Medicine, 2019

Griscelli syndrome: a model system to study vesicular trafficking.

Van Gele M et al.

Pigment Cell & Melanoma Research, 2009

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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."