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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMA2

Variant:p.A1846insFs

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LAMA2

NM_000426.4:p.A1846insFs

hg38:chr6:129401315 C>CT

Associated Papers

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.

Barić I et al.

European Journal of Human Genetics : Ejhg, 2013

23232693 (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."