Varaico: Literature-Extracted Genetic Variants

Gene:TENT5A
Variant:p.I204_S205insFs
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TENT5A

NM_017633.3:p.I204_S205insFs

Associated Papers

TENT5A-associated osteogenesis imperfecta: long-term follow-up and molecular insights.

Stasek S et al.

Jbmr Plus, 2025

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Doyard M et al.

Journal of Medical 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."