Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R2894Splc
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USH2A

NM_206933.4:p.R2894Splc

Associated Papers

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P et al.

Journal of Medical Genetics, 2012

22135276 (PubMed )
Supplement: jmedgenet-2011-100468-s5.pdf

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Garcia-Garcia G et al.

Orphanet Journal of Rare Diseases, 2011

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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."