Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.G22R
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PMEL

NM_001384361.1:p.G22R

Associated Papers

PMEL is mutated in oculocutaneous albinism.

AlAbdi L et al.

Human Genetics, 2023

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

Chrystal PW et al.

Molecules (basel, Switzerland), 2021

DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.

Peters M et al.

Bmc Veterinary Research, 2015

25890340 (PubMed )
Supplement: 12917_2015_366_MOESM1_ESM.xlsx › 981_variants

Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.

Hellström AR et al.

Plos Genetics, 2011

Evaluation of variants of melanoma-associated antigen genes and mRNA transcripts in melanomas of dogs.

Stell AJ et al.

American Journal of Veterinary Research, 2009

An investigation into the genetic background of coat colour dilution in a Charolais x German Holstein F2 resource population.

Kühn Ch et al.

Animal Genetics, 2007

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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."