Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.R612*
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CD2AP

NM_012120.3:p.R612*

Associated Papers

Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.

Liu YX et al.

Frontiers in Pediatrics, 2021

A no-nonsense approach to hereditary kidney disease.

Tokhmafshan F et al.

Pediatric Nephrology (berlin, Germany), 2020

A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood.

Tsvetkov D et al.

Clinical Medicine Insights. Case Reports, 2016

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.

Benoit G et al.

Pediatric Nephrology (berlin, Germany), 2010

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

Benoit G et al.

Pediatric Nephrology (berlin, Germany), 2010

CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).

Gigante M et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

Löwik M et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008

Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.

Löwik MM et al.

Kidney International, 2007

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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."