Varaico: Literature-Extracted Genetic Variants

Gene:ACTN4
Variant:p.Y260_S262del0
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ACTN4

NM_004924.6:p.Y260_S262del0

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

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Bierzynska A et al.

Kidney International, 2017

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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."