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source DB source ID text # proj. # Ann.
OMIM_GOF@xiajingbo 104311-20-PSEN1 Lewis et al. (2000) showed that cys92-to-ser (C92S), the PS1 homolog of the C. elegans sel-12 loss o 6 0 show
OMIM_GOF@xiajingbo 104311-24-PSEN1 Moehlmann et al. (2002) identified a leu166-to-pro (L166P) mutation in the PSEN1 gene in a female pr 6 0 show
OMIM_GOF@xiajingbo 104311-26-PSEN1 In a family with autosomal dominant early-onset Alzheimer disease (see 607822), Kwok et al. (2003) i 6 0 show
OMIM_GOF@xiajingbo 104311-31-PSEN1 In a patient with very-early-onset Alzheimer disease with spastic paraparesis and apraxia (see 60782 6 0 show
OMIM_GOF@xiajingbo 104311-35-PSEN1 In 3 affected members of a family with Alzheimer disease (AD3; 607822), Kauwe et al. (2007) iden 6 0 show
OMIM_GOF@xiajingbo 104760-12-APP In affected members of a family with early-onset AD (104300), Ancolio et al. (1999) identified a 6 0 show
OMIM_GOF@xiajingbo 104760-5-APP By in vitro functional studies, Walsh et al. (2001) found that the A692G substitution, which they re 6 0 show
OMIM_GOF@xiajingbo 613289-1-ATXN8 Moseley et al. (2006) identified IC2-immunoreactive intranuclear inclusions, detecting polygluta 6 0 show