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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TYMP

Variant:p.L305P

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TYMP

NM_001953.5:p.L305P

hg38:chr22:50526590 A>G

Associated Papers

Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.

Xu X et al.

Orphanet Journal of Rare Diseases, 2025

40826089 (PubMed )

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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."