Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.K3580_V3581Splc
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USH2A

NM_206933.4:p.K3580_V3581Splc

Associated Papers

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Ma J et al.

Human Genomics, 2023

36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 2021

Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.

Luo H et al.

Bmc Medical Genomics, 2019

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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."