Varaico: Literature-Extracted Genetic Variants

Gene:VPS33B
Variant:p.D236V
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VPS33B

NM_018668.5:p.D236V

Associated Papers

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.

Linhares ND et al.

Frontiers in Genetics, 2022

A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.

Lee MJ et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 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."