ABCA7 p.Leu400Val
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PMID: 25174650
[PubMed]
Ghani M et al: "Mutation analysis of patients with neurodegenerative disorders using NeuroX array."
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5
In total, we identified 78 potentially damaging rare variants (frequency <1%), including ABCA7 p.L400V in a family with Alzheimer`s disease and LRRK2 p.R1514Q in 6 of 98 patients with Parkinson`s disease (6.1%).
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ABCA7 p.Leu400Val 25174650:5:97
status: NEW83 (B) FLO61 with the rare ABCA7 p.L400V variant (C > G).
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ABCA7 p.Leu400Val 25174650:83:32
status: NEW104 Two AD cases from Italian FLO61 family had an extremely rare heterozygous ABCA7 p.L400V variant absent in the ESP and 1000Genomes databases.
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ABCA7 p.Leu400Val 25174650:104:82
status: NEW125 For instance, rare variants in 2 AD-related genes (ABCA7 p.L400V and ZCWPW1 p.H351R) were observed in 2 related AD patients.
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ABCA7 p.Leu400Val 25174650:125:59
status: NEW