Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.D2753N
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USH2A

NM_206933.4:p.D2753N

Associated Papers

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

31992338 (PubMed )
Supplement: 13023_2020_1311_MOESM1_ESM.docx

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Yang T et al.

Orphanet Journal of Rare Diseases, 2013

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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."