Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.R253Q
Back to variants list

TAFAZZIN

NM_000116.5:p.R253Q

Associated Papers

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Guelly C et al.

Peerj, 2021

33552729 (PubMed )
Supplement: peerj-09-10711-s004.xlsx › list_of_307_variants_

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

Burkhalter MD et al.

The Journal of Clinical Investigation, 2019

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."