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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNM1

Variant:p.P226L

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DNM1

NM_004408.4:p.P226L

hg38:chr9:128220075 C>T

Associated Papers

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Sadleir LG et al.

Neurology, 2017

28794249 (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."