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]

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

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DOI 10.1111/cge.13470

Crossref 10.1111/cge.13470