Varaico: Literature-Extracted Genetic Variants

Gene:VIPAS39
Variant:p.W59_S60delins
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VIPAS39

NM_001193315.2:p.W59_S60delins

Associated Papers

Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.

Qiu YL et al.

Human Mutation, 2019

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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."