Publications
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Spina S, Murrell JR, Yoshida H, Ghetti B, Bermingham N, Sweeney B, Dlouhy SR, Crowther RA, Goedert M, Keohane C. The novel Tau mutation G335S: clinical, neuropathological and molecular characterization. Acta neuropathologica 113: 461-470, 2007
(PubMed ID: 17186252)
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MAPT:
(Gly335Ser)
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ID: 428 |
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Ghetti B, Spina S, Murrell JR, Huey ED, Pietrini P, Sweeney B, Wassermann EM, Keohane C, Farlow MR, Grafman J. In vivo and postmortem clinicoanatomical correlations in frontotemporal dementia and parkinsonism linked to chromosome 17. Neurodegenerative Diseases 5: 215-217, 2008
(PubMed ID: 18322394)
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GRN:
(Ala9Asp)
(Ala237fs)
(Arg493X)
MAPT:
(IVS10+3G>A)
(Gly335Ser)
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ID: 506 |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (428,506)