Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.C124*
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TNFRSF11A

NM_003839.4:p.C124*

Associated Papers

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.

Kırkgöz T et al.

Frontiers in Genetics, 2022

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

Xue JY et al.

Journal of Bone and Mineral Metabolism, 2021

Dysosteosclerosis is also caused by TNFRSF11A mutation.

Guo L et al.

Journal of Human Genetics, 2018

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."