Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.E3305fs
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USH2A

NM_206933.4:p.E3305fs

Associated Papers

USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.

Ordoñez-Labastida V et al.

Molecular Vision, 2023

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Lenassi E et al.

European Journal of Human Genetics : Ejhg, 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."