This site has just undergone scheduled maintenance in order to be moved to a new infrastructure. You shouldn’t experience any change, but do let us know (
datacentre@scilifelab.se) if you think anything looks out of place.Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
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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]
PubMed 30525197
DOI 10.1111/cge.13470
Crossref 10.1111/cge.13470