Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.V332I
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PMEL

NM_001384361.1:p.V332I

Associated Papers

Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.

Chrystal PW et al.

Molecules (basel, Switzerland), 2021

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.

Lahola-Chomiak AA et al.

Human Molecular Genetics, 2019

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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."