Re-annotation of 191 developmental and epileptic...

npj Genomic Medicine 2019 / 12 Vol. 4; Iss. 1

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fad
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Volume:
4
Journal:
npj Genomic Medicine
DOI:
10.1038/s41525-019-0106-7
Date:
December, 2019
File:
PDF, 1.34 MB
2019
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