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uORF_variant #632

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CristianRiccio opened this issue Sep 13, 2023 · 0 comments
Open

uORF_variant #632

CristianRiccio opened this issue Sep 13, 2023 · 0 comments

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@CristianRiccio
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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)

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