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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MITF

Variant:p.E413K

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MITF

NM_000248.4:p.E413K

hg38:chr3:69965225 G>A

Associated Papers

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.

Buonfiglio PI et al.

Scientific Reports, 2022

34997062 (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."