Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.E3010del1
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SPEG

NM_005876.5:p.E3010del1

Associated Papers

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.

Jaouadi H et al.

International Journal of Molecular Sciences, 2022

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.

Espinosa KG et al.

Disease Models & Mechanisms, 2022

Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.

Luo S et al.

International Journal of Molecular Sciences, 2021

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.

Almannai M et al.

Circulation. Genomic and Precision Medicine, 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."