Varaico: Literature-Extracted Genetic Variants

Gene:TNR
Variant:p.Y69*
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TNR

NM_003285.3:p.Y69*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Ozaki A et al.

Journal of Human Genetics, 2025

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.

Wagner M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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