Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.N2868delFs
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USH2A

NM_206933.4:p.N2868delFs

Associated Papers

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

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants

Retinal miRNAs variations in a large cohort of inherited retinal disease.

Huang XF et al.

Ophthalmic Genetics, 2018

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

Huang XF et al.

Plos One, 2013

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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."