Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.S2331Splc
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LAMA2

NM_000426.4:p.S2331Splc

Associated Papers

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

Chausova P et al.

International Journal of Molecular Sciences, 2025

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.

Nmer S et al.

Cureus, 2024

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.

Enzmann C et al.

Journal of Neuromuscular Diseases, 2024

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

Oliveira J et al.

Clinical Genetics, 2008

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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."