Varaico: Literature-Extracted Genetic Variants

Gene:TENT5A
Variant:p.S205fs
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TENT5A

NM_017633.3:p.S205fs

Associated Papers

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

Stasek S et al.

Jbmr Plus, 2025

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

Besio R et al.

The Febs Journal, 2019

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

Doyard M et al.

Journal of Medical Genetics, 2018

TENT5/FAM46: An Enigmatic Family of Secretory Tuners.

Lacidogna D et al.

Traffic (copenhagen, Denmark), 0

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