Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.G1512fs
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LAMA2

NM_000426.4:p.G1512fs

Associated Papers

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Krenn M et al.

European Journal of Neurology, 2022

35239206 (PubMed )
Supplement: ENE-29-1815-s001.xlsx › Supplementary_Table_1

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

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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."