Varaico: Literature-Extracted Genetic Variants

Gene:WFS1
Variant:p.V633L
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WFS1

NM_006005.3:p.V633L

Associated Papers

Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.

Berry V et al.

Bmj Open Ophthalmology, 2023

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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."