Articles with "gnomad database" as a keyword



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

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Published in 2021 at "Molecular and Cellular Endocrinology"

DOI: 10.1016/j.mce.2021.111359

Abstract: Thyroglobulin (TG) is a large glycosylated protein of 2,767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead… read more here.

Keywords: gnomad database; report; novel variants; gene ... See more keywords