Varaico: Literature-Extracted Genetic Variants

Gene:CASZ1
Variant:p.K351*
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CASZ1

NM_001079843.3:p.K351*

Associated Papers

Identification of a De novo pathogenic missense variant (c.559G>A) in CASZ1 associated with dilated cardiomyopathy.

Liu RL et al.

Qjm : Monthly Journal of the Association of Physicians, 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 contributes to familial dilated cardiomyopathy.

Qiu XB et al.

Clinical Chemistry and Laboratory Medicine, 2017

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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."