Associated Papers
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
Clinical and Functional Characterization of a Novel Mutation in AVPR2 Causing Nephrogenic Diabetes Insipidus in a Four-Generation Chinese Family.
Guo S et al.
Frontiers in Pediatrics, 2021
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P17
[Identification of mutations in the arginine vasopressin receptor 2 gene in congenital nephrogenic diabetes insipidus patients].
Gu F et al.
Zhonghua Yi Xue Za Zhi, 2002
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