Varaico: Literature-Extracted Genetic Variants

Gene:TNR
Variant:p.R1192W
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TNR

NM_003285.3:p.R1192W

Associated Papers

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

Ozaki A et al.

Journal of Human Genetics, 2025

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values

Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.

Kaur S et al.

Journal of Cell Communication and Signaling, 2021

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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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."