Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.Q838*
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USH2A

NM_206933.4:p.Q838*

Associated Papers

Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.

Xia XX et al.

Stem Cell Research, 2026

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

Valenzano R et al.

International Journal of Molecular Sciences, 2026

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Bahena P et al.

Human Genetics, 2022

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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."