Hsu S, Pimenova AA, Hayes K, Villa JA, Rosene MJ, Jere M, Goate AM, Karch CM. Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2. Neurobiol Dis. 2020 Jun;139:104817. Epub 2020 Feb 19 PubMed.
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Mutations
- APP A713V
- PSEN2 R62C
- PSEN1 M146V
- PSEN1 V191A
- PSEN1 E318G
- PSEN1 R358Q
- PSEN1 I439V
- PSEN2 R62H
- PSEN2 S130L
- PSEN2 A252T
- PSEN2 V393M
- PSEN2 D439A
- PSEN1 D40del (delGAC)
- PSEN1 G378fs
- APP Y538H
- PSEN2 I235F
- PSEN1 A396T
- PSEN1 R108Q
- PSEN1 T99A
- PSEN1 H131R
- PSEN2 L238F
- PSEN1 E69D
- PSEN1 D40del (delACG)
- PSEN2 P348L
- PSEN1 M84V
- PSEN1 Q127_R128delinsG
- PSEN2 R284G
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