Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11A
Variant:p.L422fs
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TNFRSF11A

NM_003839.4:p.L422fs

Associated Papers

Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelic TNFRSF11A loss-of-function variants escaping nonsense-mediated decay.

Gajewski D et al.

Jbmr Plus, 2025

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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."