Varaico: Literature-Extracted Genetic Variants

Gene:VPS33B
Variant:p.C123_E124delFs
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VPS33B

NM_018668.5:p.C123_E124delFs

Associated Papers

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.

Zhou Y et al.

Italian Journal of Pediatrics, 2014

[The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome].

Lan T et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

Clinical and molecular genetic features of ARC syndrome.

Gissen P et al.

Human Genetics, 2006

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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."