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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTRT2

Variant:p.L231F

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ACTRT2

NM_080431.5:p.L231F

hg38:chr1:3022377 C>T

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )

Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS16_het

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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."