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: 5563C>T; Pro1855Ser

PubMed Link: 32347949

Variant Present in the following documents:

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

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Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatric Neurology

Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A

Publication Date: 2017-12

Variant appearance in text: SCN1A: 5563C>T; Pro1855Ser

PubMed Link: 29056246

Variant Present in the following documents:

• Main text

View BVdb publication page