Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.S194A
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PMEL

NM_001384361.1:p.S194A

Associated Papers

Critical residues in the PMEL/Pmel17 N-terminus direct the hierarchical assembly of melanosomal fibrils.

Leonhardt RM et al.

Molecular Biology of the Cell, 2013

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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."