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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MITF

Variant:p.R217T

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MITF

NM_000248.4:p.R217T

hg38:chr3:69956470 G>C

Associated Papers

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Yu R et al.

Biomed Research International, 2021

33506017 (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."