Varaico: Literature-Extracted Genetic Variants

Gene:CAP2
Variant:p.T212_G213Splc
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CAP2

NM_006366.3:p.T212_G213Splc

Associated Papers

A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.

Gurunathan S et al.

American Journal of Medical Genetics. Part A, 2022

Redefining actin dynamics of the pointed-end complex in striated muscle.

Iwanski J et al.

Trends in Cell Biology, 2021

CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.

Aspit L et al.

Journal of Medical Genetics, 2019

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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."