Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.M477_G478ins0
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MITF

NM_001354604.2:p.M477_G478ins0

Associated Papers

Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature.

Oliveira LJC et al.

Hereditary Cancer in Clinical Practice, 2021

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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."