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Article

5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.

Human mutation - 1 Aug 2020

Lin Jin-Huan, Masson Emmanuelle, Boulling Arnaud, Hayden Matthew, Cooper David N, Férec Claude, Liao Zhuan, Chen Jian-Min

Abstract excerpt

In the human genome, most 5' splice sites (~99%) employ the canonical GT dinucleotide whereas a small minority (~1%) use the noncanonical GC dinucleotide. The functionality and pathogenicity of 5' splice site GT>GC (+2T>C) variants have been extensively studied but we know very little about 5' splice site GC>GT (+2C>T) variants. Herein, we have addressed this deficiency by performing a meta-analysis of reported...

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PMID: 32369867
DOI: 10.1002/humu.24029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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