Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
Liu RJY et al.
The Journal of Biological Chemistry, 2023
Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.
Linhares ND et al.
Frontiers in Genetics, 2022
35281816 (PubMed )
Supplement: Table1.XLSX › Supp_Table_1
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Seo SH et al.
Clinical Genetics, 2015
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
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR et al.
Human Mutation, 2009
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