p(HGNC:MAPT, var("p.Pro301Leu")) positiveCorrelation path(MESH:"Frontotemporal Dementia")

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PubMed:26751493

Poorkaj et al. reported two exonic mutations (P301L and V337M) in two families with FTDP-17 [139], while Hutton et al. reported six different mutations in 10 families: three of these mutations (G272V, P301L and R406W) were missense mutations in exons, while the other three were in the 5' splice site of exon 10 [140].

Related Edges 7

• p(HGNC:MAPT, var("p.Arg406Trp")) positiveCorrelation path(MESH:"Frontotemporal Dementia")
• p(HGNC:MAPT, var("p.Gly272Val")) positiveCorrelation path(MESH:"Frontotemporal Dementia")
• p(HGNC:MAPT, var("p.Val337Met")) positiveCorrelation path(MESH:"Frontotemporal Dementia")
• path(MESH:"Frontotemporal Dementia") positiveCorrelation p(HGNC:MAPT, var("p.Pro301Leu"))
• path(MESH:"Frontotemporal Dementia") positiveCorrelation p(HGNC:MAPT, var("p.Val337Met"))
• path(MESH:"Frontotemporal Dementia") positiveCorrelation p(HGNC:MAPT, var("p.Gly272Val"))
• path(MESH:"Frontotemporal Dementia") positiveCorrelation p(HGNC:MAPT, var("p.Arg406Trp"))

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