Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.K346N
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CD2AP

NM_012120.3:p.K346N

Associated Papers

Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.

Nandlal L et al.

European Journal of Pediatrics, 2022

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

NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children.

Asharam K et al.

Kidney International Reports, 2018

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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."