Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.N1733D
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SCN1A

NM_006920.6:p.N1733D

Associated Papers

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+).

Tan EH et al.

Epilepsy Research, 2012

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