Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.G423V
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USH2A

NM_206933.4:p.G423V

Associated Papers

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Cortinhal T et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM et al.

Human Genetics, 2002

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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."