Varaico: Literature-Extracted Genetic Variants

Gene:TRIP4
Variant:p.Q19fs
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TRIP4

NM_016213.5:p.Q19fs

Associated Papers

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

de Feraudy Y et al.

Genome Medicine, 2024

38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Villar-Quiles RN et al.

Annals of Neurology, 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."