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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH2A

Variant:p.L3937_Y3938delFs

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USH2A

NM_206933.4:p.L3937_Y3938delFs

hg38:chr1:215728283 TAG>T

Associated Papers

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

Inaba A et al.

International Journal of Molecular Sciences, 2020

33105608 (PubMed )

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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."