Varaico: Literature-Extracted Genetic Variants

Gene:TENT5A
Variant:p.V157L
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TENT5A

NM_017633.3:p.V157L

Associated Papers

An Update on Animal Models of Osteogenesis Imperfecta.

Lv F et al.

Calcified Tissue International, 2022

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

Besio R et al.

The Febs Journal, 2019

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.

Diener S et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2016

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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."