Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.N174fs
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TNFRSF11A

NM_003839.4:p.N174fs

Associated Papers

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.

Kırkgöz T et al.

Frontiers in Genetics, 2022

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.

Xue JY et al.

Journal of Human Genetics, 2021

Dysosteosclerosis is also caused by TNFRSF11A mutation.

Guo L et al.

Journal of Human Genetics, 2018

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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."