Ontology highlight
ABSTRACT:
SUBMITTER: Kim SY
PROVIDER: S-EPMC7277841 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Kim So Young SY Lee Da-Hye DH Han Jin Hee JH Choi Byung Yoon BY
Diagnostics (Basel, Switzerland) 20200512 5
Elongation factor Tu guanosine-5'-triphosphate (GTP) binding domain containing 2 (<i>EFTUD2</i>) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the increasing number of potentially pathogenic variants reported in the literature, most previous studies have relied solely on in silico prediction of the pathogenic potential of <i>EFTUD2</i> variants, which may result in misclassification of the var ...[more]