Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.Y1338_I1339del2
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LAMA2

NM_000426.4:p.Y1338_I1339del2

Associated Papers

Identification of LAMA2 compound heterozygous variants: a case report.

Ying Y et al.

Translational Pediatrics, 2024

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

Nmer S et al.

Cureus, 2024

Novel LAMA2 variants identified in a patient with white matter abnormalities.

Yamamoto-Shimojima K et al.

Human Genome Variation, 2020

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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."