Publications:

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.

Neurobiology Of Aging

Ouled Amar Bencheikh, Bouchra B; Leveille, Etienne E; Ruskey, Jennifer A JA; Spiegelman, Dan D; Liong, Christopher C; Fon, Edward A EA; Rouleau, Guy A GA; Dauvilliers, Yves Y; Dupre, Nicolas N; Alcalay, Roy N RN; Gan-Or, Ziv Z

Publication Date: 2018-12

Variant appearance in text: PSAP: A30S

PubMed Link: 30037697

Variant Present in the following documents:

• Main text

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: PSAP: A30S; rs144942998

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page