Varaico: Literature-Extracted Genetic Variants

Gene:CASZ1
Variant:p.L38P
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CASZ1

NM_001079843.3:p.L38P

Associated Papers

Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts.

Hirono K et al.

Scientific Reports, 2024

Role of the CASZ1 transcription factor in tissue development and disease.

Liu T et al.

European Journal of Medical Research, 2023

Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy.

Orlova A et al.

International Journal of Molecular Sciences, 2022

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.

Guo J et al.

Molecular Genetics & Genomic Medicine, 2019

CASZ1 loss-of-function mutation associated with congenital heart disease.

Huang RT et al.

Gene, 2016

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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."