Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.D148V
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TNFRSF11A

NM_003839.4:p.D148V

Associated Papers

The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.

Tüysüz B et al.

Bone, 2023

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

Xue JY et al.

Journal of Bone and Mineral Metabolism, 2021

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.

Pangrazio A et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012

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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."