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Resources and tools for rare disease variant interpretation.
Licata L, Via A, Turina P, Babbi G, Benevenuta S, Carta C, Casadio R, Cicconardi A, Facchiano A, Fariselli P, Giordano D, Isidori F, Marabotti A, Martelli PL, Pascarella S, Pinelli M, Pippucci T, Russo R, Savojardo C, Scafuri B, Valeriani L, Capriotti E. Licata L, et al. Among authors: benevenuta s. Front Mol Biosci. 2023 May 10;10:1169109. doi: 10.3389/fmolb.2023.1169109. eCollection 2023. Front Mol Biosci. 2023. PMID: 37234922 Free PMC article. Review.
Challenges in predicting stabilizing variations: An exploration.
Benevenuta S, Birolo G, Sanavia T, Capriotti E, Fariselli P. Benevenuta S, et al. Front Mol Biosci. 2023 Jan 5;9:1075570. doi: 10.3389/fmolb.2022.1075570. eCollection 2022. Front Mol Biosci. 2023. PMID: 36685278 Free PMC article.
On the Upper Bounds of the Real-Valued Predictions.
Benevenuta S, Fariselli P. Benevenuta S, et al. Bioinform Biol Insights. 2019 Aug 23;13:1177932219871263. doi: 10.1177/1177932219871263. eCollection 2019. Bioinform Biol Insights. 2019. PMID: 31488948 Free PMC article.