Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.M496I
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CD2AP

NM_012120.3:p.M496I

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

Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.

Takano T et al.

Kidney International, 2019

Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Crawford BD et al.

Pediatric Nephrology (berlin, Germany), 2017

ABCA7 p.G215S as potential protective factor for Alzheimer's disease.

Sassi C et al.

Neurobiology of Aging, 2016

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.

Sampson MG et al.

Journal of the American Society of Nephrology : Jasn, 2016

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

Tsvetkov D et al.

Clinical Medicine Insights. Case Reports, 2016

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Vardarajan BN et al.

Annals of Neurology, 2015

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

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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."