Varaico: Literature-Extracted Genetic Variants

Gene:ACTN4
Variant:p.C793Y
Back to variants list

ACTN4

NM_004924.6:p.C793Y

Associated Papers

Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease.

He Z et al.

Frontiers in Pediatrics, 2022

Mutational analysis of ACTN4, encoding α-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method.

Safaříková M et al.

Folia Biologica, 2013

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."