Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.V2997fs
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SPEG

NM_005876.5:p.V2997fs

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

Novel SPEG variant cause centronuclear myopathy in China.

Tang J et al.

Journal of Clinical Laboratory Analysis, 2020

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Qualls AE et al.

Muscle & Nerve, 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."