Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

Thuresson AC, Soussi Zander C, Zhao JJ, Halvardson J, Maqbool K, Månsson E, Stenninger E, Holmlund U, Öhrner Y, Feuk L

Clin Genet 95 (3) 436-439 [2018-12-07; online 2018-12-07]

Clinical Genomics Uppsala [Collaborative]

NGI Uppsala (SNP&SEQ Technology Platform) [Service]

National Genomics Infrastructure [Service]

QC bibliography QC xrefs

DOI 10.1111/cge.13470

Crossref 10.1111/cge.13470