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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MITF

Variant:p.S342insFs

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MITF

NM_198178.3:p.S342insFs

hg38:chr3:69965199 G>GC

Associated Papers

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.

Zardadi S et al.

Bmc Medical Genomics, 2021

34544414 (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."