Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.C1546*
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LAMA2

NM_000426.4:p.C1546*

Associated Papers

Evaluation of Readthrough Efficiency of Negamycin Derivatives against Nonsense Mutations in Muscular Dystrophy Genes.

Omura N et al.

Biological & Pharmaceutical Bulletin, 2026

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.

Li S et al.

Biomolecules, 2023

37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1

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

Pharmaceutical therapies to recode nonsense mutations in inherited diseases.

Lee HL et al.

Pharmacology & Therapeutics, 2012

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes.

Allamand V et al.

The Journal of Gene Medicine, 2008

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Guicheney P et al.

Journal of Medical Genetics, 1998

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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."