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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CATSPER2

Variant:p.E130Splc

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CATSPER2

NM_172095.4:p.E130Splc

hg38:chr15:43640503 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 › SelectedGene

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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."