Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11B
Variant:p.M1R
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TNFRSF11B

NM_002546.4:p.M1R

Associated Papers

Rhizomelia and Impaired Linear Growth in a Girl with Juvenile Paget Disease: The Natural History of the Condition.

Höppner J et al.

Hormone Research in Paediatrics, 2021

Rare Inherited forms of Paget's Disease and Related Syndromes.

Ralston SH et al.

Calcified Tissue International, 2019

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.

Whyte MP et al.

Bone, 2018

Loss of Functional Osteoprotegerin: More Than a Skeletal Problem.

Grasemann C et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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

Naot D et al.

Bone, 2014

Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease.

Grasemann C et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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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."