Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.A403_L410del8
Back to variants list

PMEL

NM_001384361.1:p.A403_L410del8

Associated Papers

Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma.

Hodges ED et al.

International Journal of Molecular Sciences, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."