Varaico: Literature-Extracted Genetic Variants

Gene:DFFB
Variant:p.R216L
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DFFB

NM_004402.4:p.R216L

Associated Papers

Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II.

Graw J et al.

Genetics, 2003

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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."