Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.R2353C
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LAMA2

NM_000426.4:p.R2353C

Associated Papers

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

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Al-Shafai KN et al.

Molecular Genetics & Genomic Medicine, 2021

34137518 (PubMed )
Supplement: MGG3-9-e1709-s001.xlsx › Sheet1

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Gonzalez-Quereda L et al.

Genes, 2020

32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Ware JS et al.

Journal of the American College of Cardiology, 2018

29773157 (PubMed )
Supplement: mmc2.xlsx › Final_VariantList_Rare_ACMonly
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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."