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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MITF

Variant:p.I212Splc

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MITF

NM_000248.4:p.I212Splc

hg38:chr3:69956454 G>A

Associated Papers

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Batissoco AC et al.

Human Genetics, 2022

34599368 (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."