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Paper Details

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
J Pediatr Genet
54
2017
A18V variant, BCS1L, CECR1, DGKE, EFTUD2, PDGFRB, PYCR2, RYR1, SKIV2L, VLDLR, genetic disorders, patients
Author NameAffiliation
David BickHudsonAlpha Institute for Biotechnology
David BickHudsonAlpha Institute for Biotechnology
Tina HambuchInvitae Corporation
Howard J JacobHudsonAlpha Institute for Biotechnology
Thomas MayHudsonAlpha Institute for Biotechnology
Thomas MayUniversity of California san francisco
Paula E NorthMedical College of Wisconsin
Mary ShimoyamaMarquette University and Medical College of Wisconsin
Mary ShimoyamaMarquette University and Medical College of Wisconsin
Brandon M WilkHudsonAlpha Institute for Biotechnology
Rodney E WilloughbyMedical College of Wisconsin
Elizabeth A WortheyHudsonAlpha Institute for Biotechnology
Elizabeth A WortheyHudsonAlpha Institute for Biotechnology
David DimmockRady Children's Institute for Genomic Medicine
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