Varaico: Literature-Extracted Genetic Variants

Gene:TRIP4
Variant:p.Y48fs
Back to variants list

TRIP4

NM_016213.5:p.Y48fs

Associated Papers

'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.

Frongia I et al.

Journal of Neuromuscular Diseases, 2024

38143368 (PubMed )
Supplement: jnd-11-jnd230110-s001.xlsx › Foglio1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."