Publications
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Poorkaj P, Sharma V, Anderson L, Nemens E, Alonso ME, Orr H, White J, Heston L, Bird TD, Schellenberg GD. Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Human Mutation 11: 216-221, 1998
(PubMed ID: 9521423)
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PSEN1:
(Glu120Asp)
(His163Arg)
(Gly209Val)
(Ala260Val)
(Pro264Leu)
(Cys410Tyr)
(Ala426Pro)
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ID: 8 |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (8)