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Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure.

Endocrine - 1 Feb 2023

Franzoni Alessandra, Baldan Federica, Passon Nadia, Mio Catia, Driul Daniela, Cogo Paola, Fogolari Federico, D'Aurizio Federica, Damante Giuseppe

Abstract excerpt

PURPOSE: According to the American College of Medical Genetics (ACMG) classification, variants of uncertain significance (VUS) are gene variations whose impact on the disease risk is not yet known. VUS, therefore, represent an unmet need for genetic counselling. Aim of the study is the use the AlphaFold artificial intelligence algorithm to predict the impact of novel mutations of the IGFALS gene, detected in a...

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PMID: 36348166
DOI: 10.1007/s12020-022-03244-z

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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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