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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX16

Variant:p.Y291Y

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PEX16

NM_004813.4:p.Y291Y

hg38:chr11:45913833 A>G

Associated Papers

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Lei P et al.

Plos One, 2022

36350814 (PubMed )

Supplement: pone.0276233.s004.xlsx › RawData

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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."