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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USH1C

Variant:p.T391A

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USH1C

NM_153676.4:p.T391A

hg38:chr11:17520909 T>C

Associated Papers

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Bahena P et al.

Human Genetics, 2022

34148116 (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."