Ontology highlight
ABSTRACT:
SUBMITTER: Walters GB
PROVIDER: S-EPMC6110722 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Nature communications 20180827 1
Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carri ...[more]