Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.H450del1
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WFS1

NM_006005.3:p.H450del1

Associated Papers

Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.

Papadimitriou DT et al.

Diabetes & Metabolism, 2015

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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."