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
Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.
Martínez-Gil N et al.
International Journal of Molecular Sciences, 2021
Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.
Martínez-Gil N et al.
Scientific Reports, 2018
30026596 (PubMed )
Supplement: 41598_2018_29242_MOESM1_ESM.pdf
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
Piret SE et al.
American Journal of Medical Genetics. Part A, 2016
27540713 (PubMed )
Supplement: AJMG-170-2988-s001.docx
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.
Uitterlinden AG et al.
American Journal of Human Genetics, 2004
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