Publications:

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: SCN1A: G48C

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Plos Genetics

Depienne, Christel C; Bouteiller, Delphine D; Keren, Boris B; Cheuret, Emmanuel E; Poirier, Karine K; Trouillard, Oriane O; Benyahia, Baya B; Quelin, Chloé C; Carpentier, Wassila W; Julia, Sophie S; Afenjar, Alexandra A; Gautier, Agnès A; Rivier, François F; Meyer, Sophie S; Berquin, Patrick P; Hélias, Marie M; Py, Isabelle I; Rivera, Serge S; Bahi-Buisson, Nadia N; Gourfinkel-An, Isabelle I; Cazeneuve, Cécile C; Ruberg, Merle M; Brice, Alexis A; Nabbout, Rima R; Leguern, Eric E

Publication Date: 2009-02

Variant appearance in text: SCN1A: 142G>T

PubMed Link: 19214208

Variant Present in the following documents:

• Main text

View BVdb publication page