Varaico: Literature-Extracted Genetic Variants

Gene:VPS33B
Variant:p.L493_I494Splc
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VPS33B

NM_018668.5:p.L493_I494Splc

Associated Papers

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

Gissen P et al.

Nature Genetics, 2004

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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."