Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.D631G
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USH2A

NM_206933.4:p.D631G

Associated Papers

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

García-Bohórquez B et al.

Molecular Therapy. Nucleic Acids, 2024

39629117 (PubMed )
Supplement: mmc2.pdf

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Liang Y et al.

Stem Cell Research & Therapy, 2023

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA et al.

Molecular Vision, 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."