id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_5wajvbu6brdaxjiyonvr2gf33u	Erik G. Puffenberger	Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases	2012.0	15	.pdf	application/pdf	12024	1744	64	Genetic Mapping and Exome Sequencing Identify polymorphism (SNP) microarrays to genetically map recessive disorders to large autozygous haplotype blocks Using between 1 and 5 patient samples per disorder, we identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants (2012) Genetic Mapping and Exome Sequencing Identify Variants Associated with overexpression of N-terminal FLAG-tagged human BRAT1 (D) and hBRAT1 c.638_639insA (E) in mouse IMCD3 cells. lysates from human ARPE-19 cells transiently transfected with wt hBRAT1 displaying FLAG-hBRAT1 fusion protein at ,90 kDa or with hBRAT1 single affected patient identified 15 sequence variants within the 5 affected individuals identified 9 homozygous sequence variants Mutant N-terminal FLAG-Cradd (p.Gly128Arg) localizes to the cytoplasm and nucleus in a manner that is indistinguishable from the wild-type wild-type human BRAT1 for FLAG-fusion proteins overexpressed Whole exome sequencing and homozygosity mapping identify mutation in the	./cache/work_5wajvbu6brdaxjiyonvr2gf33u.pdf	./txt/work_5wajvbu6brdaxjiyonvr2gf33u.txt