Varaico: Literature-Extracted Genetic Variants

Gene:MCTP2
Variant:p.S80fs
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MCTP2

NM_001385001.1:p.S80fs

Associated Papers

Novel heterozygous mutation of MCTP2 gene in a patient with coarctation of the aorta.

Liu YX et al.

Qjm : Monthly Journal of the Association of Physicians, 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

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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."