Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.T2988insFs
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SPEG

NM_005876.5:p.T2988insFs

Associated Papers

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Silverstein S et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646813 (PubMed )
Supplement: media-3.xlsx › Table_S7

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

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

Qualls AE et al.

Muscle & Nerve, 2019

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