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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LMNA

Variant:p.S599delFs

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LMNA

NM_170707.4:p.S599delFs

hg38:chr1:156138585 CT>C

Associated Papers

McArdle disease: molecular genetic update.

Andreu AL et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007

17915571 (PubMed )

Molecular genetics of McArdle's disease.

Nogales-Gadea G et al.

Current Neurology and Neuroscience Reports, 2007

17217859 (PubMed )

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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."