The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies.

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Title: The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies.
Authors: Ruskey, J. A.1,2, Zhou, S.3, Santiago, R.4, Franche, L.‐A.5,6, Alam, A.1, Roncière, L.7, Spiegelman, D.1,2, Fon, E. A.8, Trempe, J.‐F.9, Kalia, L. V.10, Postuma, R. B.11,12, Dupre, N.5,6, Rivard, G.‐E.13, Assouline, S.4, Amato, D.14, Gan‐Or, Z.1,2,15 ziv.gan-or@mcgill.ca
Source: Clinical Genetics. Oct2018, Vol. 94 Issue 3/4, p339-345. 7p. 2 Diagrams, 4 Charts, 1 Graph.
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  Data: The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies.
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  Data: <searchLink fieldCode="JN" term="%22Clinical+Genetics%22">Clinical Genetics</searchLink>. Oct2018, Vol. 94 Issue 3/4, p339-345. 7p. 2 Diagrams, 4 Charts, 1 Graph.
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