Article
Functional and clinical implications of genetic structure in 1686 Italian exomes.
Human mutation - 1 Mar 2021
Birolo Giovanni, Aneli Serena, Di Gaetano Cornelia, Cugliari Giovanni, Russo Alessia, Allione Alessandra, Casalone Elisabetta, Giorgio Elisa, Paraboschi Elvezia M, Ardissino Diego, Duga Stefano, Asselta Rosanna, Matullo Giuseppe
Abstract excerpt
To reconstruct the phenotypical and clinical implications of the Italian genetic structure, we thoroughly analyzed a whole-exome sequencing data set comprised of 1686 healthy Italian individuals. We found six previously unreported variants with remarkable frequency differences between Northern and Southern Italy in the HERC2, OR52R1, ADH1B, and THBS4 genes. We reported 36 clinically relevant variants (submitted...
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