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Publications
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Dowjat K, Kuchna I, Wisniewski K, Wisniewski T, Wegiel J. Another highly pathogenic Alzheimer presenilin-1 mutation in codon 117: genotype-phenotype comparison of P117S and P117L mutations. Neurobiology of Aging 23 (1S): S219, 2002 |
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PSEN1:
(Pro117Ser)
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ID: 133 | |
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Dowjat WK, Kuchna I, Wisniewski T, Wegiel J. A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations. Journal of Alzheimer's Disease 6: 31-43, 2004 (PubMed ID: 15004326) |
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PSEN1:
(Pro117Ser)
(Pro117Leu)
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ID: 366 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (366,133)
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