The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies.
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PMID: 29920646 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Ruskey JA, Zhou S, Santiago R, Franche LA, Alam A, Roncière L, Spiegelman D, Fon EA, Trempe JF, Kalia LV, Postuma RB, Dupre N, Rivard GE, Assouline S, Amato D, Gan-Or Z Tags: Clin Genet Source Type: research
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