Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.K1912delFs
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USH2A

NM_206933.4:p.K1912delFs

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

36034145 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Jiang L et al.

Orphanet Journal of Rare Diseases, 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."