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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIP12

Variant:p.S343fs

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TRIP12

NM_001348323.3:p.S343fs

hg38:chr2:229840927 AC>N

Associated Papers

Novel TRIP12 variants in two Lebanese patients with neurodevelopmental delay.

Khalifeh S et al.

Bmc Medical Genomics, 2025

41413819 (PubMed )

Supplement: 12920_2025_2299_MOESM1_ESM.xlsx › Supplementary_Table_

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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."