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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPV6

Variant:p.E343_A344Splc

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TRPV6

NM_018646.6:p.E343_A344Splc

hg38:chr7:142875682 T>C

Associated Papers

Vestibular function is associated with residual low-frequency hearing loss in patients with bi-allelic mutations in the SLC26A4 gene.

Jung J et al.

Hearing Research, 2016

26900070 (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."