Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.E1526K
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FN1

NM_212482.4:p.E1526K

Associated Papers

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.

Lin YW et al.

Orphanet Journal of Rare Diseases, 2024

Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.

Su BN et al.

Frontiers in Aging Neuroscience, 2022

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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."