Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.E314_R315del2
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MITF

NM_198159.3:p.E314_R315del2

Associated Papers

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.

Lee CY et al.

Molecular Genetics & Genomic Medicine, 2022

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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."