Mauricio Gomes Pío

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review

H. Targovnik, K. Scheps, C. Rivolta, 2022, Molecular and Cellular Endocrinology.

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

R. González-Sarmiento, H. Targovnik, A. Chiesa, 2022, Endocrine.

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms

H. Targovnik, K. Scheps, C. Rivolta, 2021, Molecular and Cellular Endocrinology.

A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis

H. Targovnik, A. Chiesa, C. Rivolta, 2020, Molecular and Cellular Endocrinology.