Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.N346D
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USH2A

NM_206933.4:p.N346D

Associated Papers

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Mihalich A et al.

Genes, 2024

38927702 (PubMed )
Supplement: genes-15-00766-s001.zip › Tab._S3.xlsx › Foglio1

Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.

Bianco L et al.

Investigative Ophthalmology & Visual Science, 2023

38088826 (PubMed )
Supplement: iovs-64-15-13_s001.pdf

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
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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."