Varaico: Literature-Extracted Genetic Variants

Gene:TRIT1
Variant:p.G310Splc
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TRIT1

NM_017646.6:p.G310Splc

Associated Papers

Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay.

Beyad F et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation.

Yoo S et al.

Brain & Development, 2021

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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."