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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMEL

Variant:p.F215L

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PMEL

NM_001384361.1:p.F215L

hg38:chr12:55957658 G>T

Associated Papers

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

Hee JS et al.

Scientific Reports, 2017

28272432 (PubMed )

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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."