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329930 RESULTS

MAPT I260V

MUTATIONS MAPT 44073986 GRCh37/hg19 rs63751249 A G g.110026A> G g.107200A> G I595V Exon 9 Point, Missense Coding Selective increase in tau aggregation (four-repeat isoforms only); No disruption of exon 10 splicing. Extensive tau pathology, but no neurofibrill

MAPT K257T

MUTATIONS MAPT 44073978 GRCh37/hg19 rs63750129 A C g.110018A> C g.107192A> C Exon 9 Point, Missense Coding Impairs its own lysosomal degradation; reduces ability to promote microtubule assembly. Frontotemporal atrophy, especially in the temporal lobes. Numero

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