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Article

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

Molecular and cellular endocrinology - 1 Dec 2022

Molina Maricel F, Pio Mauricio Gomes, Scheps Karen G, Adrover Ezequiela, Abelleyro Miguel M, Targovnik Héctor M, Rivolta Carina M

Abstract excerpt

Thyroid peroxidase (TPO) is a membrane-bound glycoprotein located at the apical side of the thyroid follicular cells that catalyzes both iodination and coupling of iodotyrosine residues within the thyroglobulin molecule, leading to the synthesis of thyroid hormone. Variants in TPO cause congenital hypothyroidism (CH) by iodide organification defect and are commonly inherited in an autosomal recessive fashion. In...

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Identifiers

PMID: 35995307
DOI: 10.1016/j.mce.2022.111748

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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