Varaico: Literature-Extracted Genetic Variants

Gene:EPB41
Variant:p.L79P
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EPB41

NM_001376013.1:p.L79P

Associated Papers

A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin-Associated RP Models.

Loewen AD et al.

Investigative Ophthalmology & Visual Science, 2025

41328990 (PubMed )
Supplement: iovs-66-15-9_s001.docx

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

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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."