Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11B
Variant:p.F117L
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TNFRSF11B

NM_002546.4:p.F117L

Associated Papers

Genetic disorders associated with the RANKL/OPG/RANK pathway.

Xue JY et al.

Journal of Bone and Mineral Metabolism, 2021

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.

Gottesman GS et al.

American Journal of Medical Genetics. Part A, 2016

Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease.

Naot D et al.

Bone, 2014

Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels.

Whyte MP et al.

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

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Chong B et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003

Association between g.19163A>G and g.23298T>C genetic variants of the osteoprotegerin gene and bone mineral density in Chinese women.

Liu S et al.

Hormones (athens, Greece), 0

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