FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3120403007> ?p ?o ?g. }

• W3120403007 endingPage "833" @default.
• W3120403007 startingPage "828" @default.
• W3120403007 abstract "The Mediator multiprotein complex functions as a regulator of RNA polymerase II–catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease‐causing variants in MED27 , encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021;89:828–833" @default.
• W3120403007 created "2021-01-18" @default.
• W3120403007 creator A5000612576 @default.
• W3120403007 creator A5002093424 @default.
• W3120403007 creator A5002411386 @default.
• W3120403007 creator A5006293085 @default.
• W3120403007 creator A5013658414 @default.
• W3120403007 creator A5014599513 @default.
• W3120403007 creator A5015077221 @default.
• W3120403007 creator A5015301748 @default.
• W3120403007 creator A5015361582 @default.
• W3120403007 creator A5015848389 @default.
• W3120403007 creator A5019938629 @default.
• W3120403007 creator A5020762254 @default.
• W3120403007 creator A5023261072 @default.
• W3120403007 creator A5025719996 @default.
• W3120403007 creator A5025822993 @default.
• W3120403007 creator A5026343653 @default.
• W3120403007 creator A5026673938 @default.
• W3120403007 creator A5027430673 @default.
• W3120403007 creator A5029112020 @default.
• W3120403007 creator A5031372479 @default.
• W3120403007 creator A5034386169 @default.
• W3120403007 creator A5036385729 @default.
• W3120403007 creator A5037301698 @default.
• W3120403007 creator A5037632112 @default.
• W3120403007 creator A5038940488 @default.
• W3120403007 creator A5041254013 @default.
• W3120403007 creator A5048171462 @default.
• W3120403007 creator A5048485464 @default.
• W3120403007 creator A5051130277 @default.
• W3120403007 creator A5056837287 @default.
• W3120403007 creator A5058236710 @default.
• W3120403007 creator A5060685431 @default.
• W3120403007 creator A5061096092 @default.
• W3120403007 creator A5067119618 @default.
• W3120403007 creator A5067722631 @default.
• W3120403007 creator A5071057428 @default.
• W3120403007 creator A5072912149 @default.
• W3120403007 creator A5080076683 @default.
• W3120403007 creator A5080770864 @default.
• W3120403007 creator A5082436384 @default.
• W3120403007 creator A5083555191 @default.
• W3120403007 creator A5085775137 @default.
• W3120403007 creator A5088077097 @default.
• W3120403007 creator A5091323267 @default.
• W3120403007 creator A5005931345 @default.
• W3120403007 date "2021-02-08" @default.
• W3120403007 modified "2023-10-18" @default.
• W3120403007 title "<scp><i>MED27</i></scp> Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia" @default.
• W3120403007 cites W1808711893 @default.
• W3120403007 cites W1969270394 @default.
• W3120403007 cites W1972113050 @default.
• W3120403007 cites W2033381913 @default.
• W3120403007 cites W2038473742 @default.
• W3120403007 cites W2042031939 @default.
• W3120403007 cites W2048156032 @default.
• W3120403007 cites W2049311981 @default.
• W3120403007 cites W2059145105 @default.
• W3120403007 cites W2076357933 @default.
• W3120403007 cites W2105686440 @default.
• W3120403007 cites W2195303995 @default.
• W3120403007 cites W2591796424 @default.
• W3120403007 cites W2741053548 @default.
• W3120403007 cites W2772832167 @default.
• W3120403007 cites W2807640039 @default.
• W3120403007 cites W2905452503 @default.
• W3120403007 cites W2950856526 @default.
• W3120403007 cites W2981164535 @default.
• W3120403007 cites W4245645963 @default.
• W3120403007 doi "https://doi.org/10.1002/ana.26019" @default.
• W3120403007 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33443317" @default.
• W3120403007 hasPublicationYear "2021" @default.
• W3120403007 type Work @default.
• W3120403007 sameAs 3120403007 @default.
• W3120403007 citedByCount "13" @default.
• W3120403007 countsByYear W31204030072021 @default.
• W3120403007 countsByYear W31204030072022 @default.
• W3120403007 countsByYear W31204030072023 @default.
• W3120403007 crossrefType "journal-article" @default.
• W3120403007 hasAuthorship W3120403007A5000612576 @default.
• W3120403007 hasAuthorship W3120403007A5002093424 @default.
• W3120403007 hasAuthorship W3120403007A5002411386 @default.
• W3120403007 hasAuthorship W3120403007A5005931345 @default.
• W3120403007 hasAuthorship W3120403007A5006293085 @default.
• W3120403007 hasAuthorship W3120403007A5013658414 @default.
• W3120403007 hasAuthorship W3120403007A5014599513 @default.
• W3120403007 hasAuthorship W3120403007A5015077221 @default.
• W3120403007 hasAuthorship W3120403007A5015301748 @default.
• W3120403007 hasAuthorship W3120403007A5015361582 @default.
• W3120403007 hasAuthorship W3120403007A5015848389 @default.
• W3120403007 hasAuthorship W3120403007A5019938629 @default.
• W3120403007 hasAuthorship W3120403007A5020762254 @default.
• W3120403007 hasAuthorship W3120403007A5023261072 @default.
• W3120403007 hasAuthorship W3120403007A5025719996 @default.
• W3120403007 hasAuthorship W3120403007A5025822993 @default.
• W3120403007 hasAuthorship W3120403007A5026343653 @default.
• W3120403007 hasAuthorship W3120403007A5026673938 @default.

• next