Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.T174A
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PMEL

NM_001384361.1:p.T174A

Associated Papers

Gain-of-function genetic screen of the kinome reveals BRSK2 as an inhibitor of the NRF2 transcription factor.

Tamir TY et al.

Journal of Cell Science, 2020

Melanosomal formation of PMEL core amyloid is driven by aromatic residues.

Hee JS et al.

Scientific Reports, 2017

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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."