Varaico: Literature-Extracted Genetic Variants

Gene:TENT5A
Variant:p.K312del1
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TENT5A

NM_017633.3:p.K312del1

Associated Papers

Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.

Yu H et al.

Orphanet Journal of Rare Diseases, 2023

Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.

Jovanovic M et al.

Endocrine Reviews, 2022

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.

Besio R et al.

The Febs Journal, 2019

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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."