Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.P494delFs
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CD2AP

NM_012120.3:p.P494delFs

Associated Papers

[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].

Quiros A et al.

Revue Medicale De Liege, 2020

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Beltcheva O et al.

Human Mutation, 2001

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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."