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 [2019-03-00; online 2018-12-07]

Clinical Genomics Uppsala [Collaborative]

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

National Genomics Infrastructure [Service]

QC bibliography QC xrefs

PubMed 30525197

DOI 10.1111/cge.13470

Crossref 10.1111/cge.13470

pmc: PMC6392105