Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11B
Variant:p.G134Splc
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TNFRSF11B

NM_002546.4:p.G134Splc

Associated Papers

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis.

Pansa AC et al.

American Journal of Medical Genetics. Part A, 2025

Genetic association and altered gene expression of osteoprotegerin in otosclerosis patients.

Priyadarshi S et al.

Annals of Human Genetics, 2015

Paget's disease of bone: evidence for complex pathogenetic interactions.

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.

Beyens G et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007

Genetics of Paget's disease of bone.

Daroszewska A et al.

Clinical Science (london, England : 1979), 2005

Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin.

Daroszewska A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2004

Evaluation of the role of RANK and OPG genes in Paget's disease of bone.

Wuyts W et al.

Bone, 2001

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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."