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: SYNJ1: E67A; rs199750187
The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.
Frontiers In Genetics
Illés, Anett A; Csabán, Dóra D; Grosz, Zoltán Z; Balicza, Péter P; Gézsi, András A; Molnár, Viktor V; Bencsik, Renáta R; Gál, Anikó A; Klivényi, Péter P; Molnar, Maria Judit MJ
Publication Date: 2019
Variant appearance in text: SYNJ1: 200A>C; E67A; rs199750187