Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.A972fs
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SPEG

NM_005876.5:p.A972fs

Associated Papers

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.

Gurgel-Giannetti J et al.

Neuromuscular Disorders : Nmd, 2021

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.

Zhang G et al.

Bmc Pediatrics, 2021

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.

Almannai M et al.

Circulation. Genomic and Precision Medicine, 2021

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."