Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.Y1345*
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LAMA2

NM_000426.4:p.Y1345*

Associated Papers

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.

Mianesaz H et al.

Molecular Genetics & Genomic Medicine, 2023

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.

El Kadiri Y et al.

Bmc Medical Genomics, 2021

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.

Nelson I et al.

Journal of Neuromuscular Diseases, 2015

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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."