Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.E425*
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MITF

NM_001354604.2:p.E425*

Associated Papers

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.

Li X et al.

Human Genetics, 2023

Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.

Wang G et al.

Human Genetics, 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."