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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MIOS

Variant:p.G306R

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MIOS

NM_019005.4:p.G306R

hg38:chr7:7573391 G>C

Associated Papers

Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.

Lee WS et al.

Neurology, 2020

32847954 (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."