Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.R683fs
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LAMA2

NM_000426.4:p.R683fs

Associated Papers

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Harris E et al.

Orphanet Journal of Rare Diseases, 2017

Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report.

Liang Y et al.

Biomedical Reports, 2017

LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.

Løkken N et al.

Muscle & Nerve, 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."