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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MITF

Variant:p.S216_R217del1

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MITF

NM_001354604.2:p.S216_R217del1

hg38:chr3:69939161 TCAC>T

Associated Papers

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

Wang XP et al.

Journal of Human Genetics, 2018

29531335 (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."