De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24444
Abstract: TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease… read more here.
Keywords: putative loss; loss function; neuro developmental; variants taf4 ... See more keywords
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-00443-5
Abstract: Variants predicted to result in the loss of function of human genes have attracted interest because of their clinical impact and surprising prevalence in healthy individuals. Here, we present ALoFT (annotation of loss-of-function transcripts), a… read more here.
Keywords: putative loss; disease; loss function; function variants ... See more keywords