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: GLA: D83N; rs782722577
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.
Bmc Neurology
Fancellu, Laura L; Borsini, Walter W; Romani, Ilaria I; Pirisi, Angelo A; Deiana, Giovanni Andrea GA; Sechi, Elia E; Doneddu, Pietro Emiliano PE; Rassu, Anna Laura AL; Demurtas, Rita R; Scarabotto, Anna A; Cassini, Pamela P; Arbustini, Eloisa E; Sechi, GianPietro G
Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.
Clinica Chimica Acta; International Journal Of Clinical Chemistry
Ferreira, Susana S; Auray-Blais, Christiane C; Boutin, Michel M; Lavoie, Pamela P; Nunes, José Pedro JP; Martins, Elisabete E; Garman, Scott S; Oliveira, João Paulo JP