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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMA2

Variant:p.S2331Splc

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LAMA2

NM_000426.4:p.S2331Splc

hg38:chr6:129460329 G>A

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

28877744 (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."