Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.W434*
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TNFRSF11A

NM_003839.4:p.W434*

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 receptor oligomerisation in the regulation of NFκB signalling.

Das S et al.

Journal of Molecular Endocrinology, 2014

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

Crockett JC et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2011

A single-center experience in 20 patients with infantile malignant osteopetrosis.

Mazzolari E et al.

American Journal of Hematology, 2009

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

Guerrini MM et al.

American Journal of Human Genetics, 2008

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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."