Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.C2603*
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USH2A

NM_206933.4:p.C2603*

Associated Papers

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

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 comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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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."