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uORF_variant

Open CristianRiccio opened this issue 1 year ago • 0 comments

What is this request referring to? 5 prime untranslated region open reading frame variant

What is the name you would like SO to give the term? uORF_variant

What is the definition that you would like for this term? a variant occurring within a 5 prime UTR ORF

Synonyms

Parent Term

Relevant Publications PMID: 32461616, Whiffin et al 2020 Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. (Nature Communications)

PMID: 32926138, Zhang et al 2021 Annotating high-impact 5'untranslated region variants with the UTRannotator (Bioinformatics)

CristianRiccio avatar Sep 13 '23 14:09 CristianRiccio