Publications:

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Stosser, Mary Beth MB; Lindy, Amanda S AS; Butler, Elizabeth E; Retterer, Kyle K; Piccirillo-Stosser, Caitlin M CM; Richard, Gabriele G; McKnight, Dianalee A DA

Publication Date: 2018-04

Variant appearance in text: SCN1A: 2713G>A

PubMed Link: 28837158

Variant Present in the following documents:

• Main text
• gim2017114a.pdf

View BVdb publication page