Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.P1838L
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SCN1A

NM_001165963.4:p.P1838L

Associated Papers

Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.

Hieu NLT et al.

American Journal of Medical Genetics. Part A, 2022

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.

Yang X et al.

Scientific Reports, 2017

29142202 (PubMed )
Supplement: 41598_2017_15814_MOESM1_ESM.pdf
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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."