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Publications
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Eckman CB, Mehta ND, Crook R, Perez-tur J, Prihar G, Pfeiffer E, Graff-Radford N, Hinder P, Yager D, Zenk B, Refolo LM, Prada CM, Younkin SG, Hutton M, Hardy J. A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Human Molecular Genetics 6: 2087-2089, 1997 (PubMed ID: 9328472) |
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APP:
(Ile716Val; Florida APP)
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ID: 39 | |
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De Jonghe C, Esselens C, Kumar-Singh S, Craessaerts K, Serneels S, Checler F, Annaert W, Van Broeckhoven C, De Strooper B. Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability. Human Molecular Genetics 10: 1665-1671, 2001 (PubMed ID: 11487570) |
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APP:
(Thr714Ile, Austrian APP)
(Val715Met; French APP)
(Val715Ala; German APP)
(Ile716Val; Florida APP)
(Val717Ile; London APP)
(Val717Leu)
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ID: 128 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (39,128)
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