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
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Sun Y et al.
Frontiers in Genetics, 2019
31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
Xie H et al.
Scientific Reports, 2017
28333167 (PubMed )
Supplement: srep44271-s1.pdf
The influence of g.19124G>a genetic polymorphism in the OPG gene on bone mineral density in Chinese women.
Zhu J et al.
Genetic Testing and Molecular Biomarkers, 2013
Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures.
Jurado S et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2010
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