Molecular Effects of Mutations in Human Genetic Diseases

Int J Mol Sci. 2022 Jun 8;23(12):6408. doi: 10.3390/ijms23126408.

Authors

Emanuela Leonardi^{1

2}, Castrense Savojardo³, Giovanni Minervini⁴

Affiliations

¹ Department of Woman and Child Health, University of Padova, 35128 Padova, Italy.
² Pediatric Research Institute, Città della Speranza, 35127 Padova, Italy.
³ Dipartimento di Farmacia e Biotecnologie, University of Bologna, 40126 Bologna, Italy.
⁴ Department of Biomedical Science, University of Padova, 35131 Padova, Italy.

Abstract

Next-generation sequencing (NGS) has enormously improved the identification of disease-candidate genetic variants [...].

Publication types

Editorial

MeSH terms

High-Throughput Nucleotide Sequencing*
Humans
Mutation