Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.H127Y
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SCN1A

NM_001165963.4:p.H127Y

Associated Papers

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

Pitfalls in genetic testing: the story of missed SCN1A mutations.

Djémié T et al.

Molecular Genetics & Genomic Medicine, 2016

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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."