Reactome | Shendure, J

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created	[InstanceEdit:5652118] Jassal, Bijay, 2014-11-27
dbId	5652117
displayName	Shendure, J
firstname	Jay
initial	J
publications	[LiteratureReference:5679077] Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia [LiteratureReference:9772486] A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes [LiteratureReference:9750875] A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function [LiteratureReference:8938466] Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility [LiteratureReference:9629985] A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer [LiteratureReference:5652121] Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation [LiteratureReference:9944939] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome [LiteratureReference:9698138] The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
schemaClass	Person
surname	Shendure

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