Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Publications

López de Munain A, Alzualde A, Gorostidi A, Otaegui D, Ruiz-Martínez J, Indakoetxea B, Ferrer I, Pérez-Tur J, Sáenz A, Bergareche A, Barandiarán M, Poza JJ, Zabalza R, Ruiz I, Urtasun M, Fernández-Manchola I, Olasagasti B, Espinal JB, Olaskoaga J, Ruibal M, Moreno F, Carrera N, Massó JF. Mutations in Progranulin Gene: Clinical, Pathological, and Ribonucleic Acid Expression Findings. Biological Psychiatry 63: 946-952, 2008 (PubMed ID: 17950702)

Mutations

GRN: (Val5Leu) (Arg177His) (Ala237fs) (Pro357fs)
MAPT: (Pro301Leu)

ID: 500


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic


Selection:
Publication ID In (500)



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