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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MITF

Variant:p.R323delFs

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MITF

NM_001354604.2:p.R323delFs

hg38:chr3:69956464 GA>G

Associated Papers

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

Li X et al.

Human Genetics, 2023

36576601 (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."