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Article

Exploring non-coding genetic variability in ACE2: Functional annotation and in vitro validation of regulatory variants.

Gene - 15 Jul 2024

Giovannetti Agnese, Lazzari Sara, Mangoni Manuel, Traversa Alice, Mazza Tommaso, Parisi Chiara, Caputo Viviana

Abstract excerpt

The surge in human whole-genome sequencing data has facilitated the study of non-coding region variations, yet understanding their biological significance remains a challenge. We used a computational workflow to assess the regulatory potential of non-coding variants, with a particular focus on the Angiotensin Converting Enzyme 2 (ACE2) gene. This gene is crucial in physiological processes and serves as the entry...

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Identifiers

PMID: 38570058
DOI: 10.1016/j.gene.2024.148422

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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