| http://purl.uniprot.org/citations/30150678 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30150678 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30150678 | http://www.w3.org/2000/01/rdf-schema#comment | "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. Carriers have 24% less white matter (WM) volume (β = -2.1SD, P = 5.1 × 10-8), 47% less corpus callosum (CC) volume (β = -2.4SD, P = 5.5 × 10-10) and lower brain-wide fractional anisotropy (P = 6.7 × 10-4). In summary, we show that loss of MAP1B function affects general cognitive ability through a profound, brain-wide WM deficit with likely disordered or compromised axons."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-018-05595-6"xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-018-05595-6"xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Ingason A."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Ingason A."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Stefansson H."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Stefansson H."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Stefansson K."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Stefansson K."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Steinberg S."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Steinberg S."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Sulem P."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Sulem P."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Unnsteinsdottir U."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Unnsteinsdottir U."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Gudbjartsson D.F."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Gudbjartsson D.F."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Lee A.L."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Lee A.L."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Nawaz M.S."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Nawaz M.S."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Jonsson L."xsd:string |
| http://purl.uniprot.org/citations/30150678 | http://purl.uniprot.org/core/author | "Jonsson L."xsd:string |