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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TNPO2

Variant:p.Q32R

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TNPO2

NM_001382241.1:p.Q32R

hg38:chr19:12720883 T>C

Associated Papers

A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability.

Cohen R et al.

American Journal of Medical Genetics. Part A, 2025

41311105 (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."