Varaico: Literature-Extracted Genetic Variants

Gene:ACTN4
Variant:p.Q348R
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ACTN4

NM_004924.6:p.Q348R

Associated Papers

Early use of renin-angiotensin-aldosterone system inhibitors and stable renal function in familial focal segmental glomerulosclerosis with ACTN4 mutation: a case report and literature review.

Miyasako K et al.

Bmc Nephrology, 2025

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

Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation.

Kakajiwala AK et al.

Clinical Nephrology. Case Studies, 2015

Alpha-actinin-4 and CLP36 protein deficiencies contribute to podocyte defects in multiple human glomerulopathies.

Liu Z et al.

The Journal of Biological Chemistry, 2011

ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.

Dai S et al.

Nephron. Clinical Practice, 2009

Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.

Weins A et al.

Journal of the American Society of Nephrology : Jasn, 2005

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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."