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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FASTKD1

Variant:p.Y486C

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FASTKD1

NM_024622.6:p.Y486C

hg38:chr2:169546462 T>C

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 › HLMS04_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."