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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LOXHD1

Variant:p.A914delFs

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LOXHD1

NM_001384474.1:p.A914delFs

hg38:chr18:46560400 CG>C

Associated Papers

Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.

Kim BJ et al.

Journal of Medical Genetics, 2022

33753533 (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."