Varaico: Literature-Extracted Genetic Variants

Gene:TRNT1
Variant:p.P11_R16delFs
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TRNT1

NM_182916.3:p.P11_R16delFs

Associated Papers

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Ly J et al.

Molecular Cell, 2025

Alternative start codon selection shapes mitochondrial function during evolution, homeostasis, and disease.

Ly J et al.

Biorxiv : the Preprint Server for Biology, 2025

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
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