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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD2AP

Variant:p.V578insFs

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CD2AP

NM_012120.3:p.V578insFs

hg38:chr6:47609223 T>TG

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

34408996 (PubMed )

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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."