Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.R44*
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TYMP

NM_001953.5:p.R44*

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review.

Christodoulou MV et al.

Radiology Case Reports, 2025

39758336 (PubMed )
Supplement: mmc1.pdf

Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.

Redha N et al.

Journal of Central Nervous System Disease, 2024

38550250 (PubMed )
Supplement: sj-pdf-1-cns-10.1177_11795735241241423.pdf

Genetic Variants in the Mitochondrial Thymidylate Biosynthesis Pathway Increase Colorectal Cancer Risk.

Arrait EM et al.

Current Oncology (toronto, Ont.), 2023

37754498 (PubMed )
Supplement: curroncol-30-00583-s001.zip › curroncol-2432755-supplementary.pdf

Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.

Mojtabavi H et al.

Journal of Molecular Neuroscience : Mn, 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."