Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: PRRT2: G305W; rs767799831
PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.
Cell Reports
Coleman, Jeff J; Jouannot, Ouardane O; Ramakrishnan, Sathish K SK; Zanetti, Maria N MN; Wang, Jing J; Salpietro, Vincenzo V; Houlden, Henry H; Rothman, James E JE; Krishnakumar, Shyam S SS
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Brain : A Journal Of Neurology
Gardiner, Alice R AR; Jaffer, Fatima F; Dale, Russell C RC; Labrum, Robyn R; Erro, Roberto R; Meyer, Esther E; Xiromerisiou, Georgia G; Stamelou, Maria M; Walker, Matthew M; Kullmann, Dimitri D; Warner, Tom T; Jarman, Paul P; Hanna, Mike M; Kurian, Manju A MA; Bhatia, Kailash P KP; Houlden, Henry H
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Neurology
Gardiner, Alice R AR; Bhatia, Kailash P KP; Stamelou, Maria M; Dale, Russell C RC; Kurian, Manju A MA; Schneider, Susanne A SA; Wali, G M GM; Counihan, Tim T; Schapira, Anthony H AH; Spacey, Sian D SD; Valente, Enza-Maria EM; Silveira-Moriyama, Laura L; Teive, Hélio A G HA; Raskin, Salmo S; Sander, Josemir W JW; Lees, Andrew A; Warner, Tom T; Kullmann, Dimitri M DM; Wood, Nicholas W NW; Hanna, Michael M; Houlden, Henry H