Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.G2633Splc
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LAMA2

NM_000426.4:p.G2633Splc

Associated Papers

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

Nmer S et al.

Cureus, 2024

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.

Quijano-Roy S et al.

Journal of Neurology, 2022

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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."