Publications:

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: SCN1A: 4321G>A; Ala1441Thr

PubMed Link: 32347949

Variant Present in the following documents:

• Main text
• jamanetwopen-3-e203812-s001.pdf

View BVdb publication page

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

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 4321G>A; Ala1441Thr

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page