Varaico: Literature-Extracted Genetic Variants

Gene:VIPAS39
Variant:p.Q221K
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VIPAS39

NM_001193315.2:p.Q221K

Associated Papers

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

Seo SH et al.

Clinical Genetics, 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."