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Article

Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.

Molecular genetics & genomic medicine - 1 Feb 2021

Fang Yanlan, Chen Hong, Chen Qingqing, Wang Chunlin, Liang Li

Abstract excerpt

SUB-HEADING: Compound hemizygous variants in SERPINA7 gene. BACKGROUND: Thyroxine-binding globulin (TBG) is encoded by SERPINA7 (OMIM. 314200) which is located on Xq22.3. SERPINA7 variants caused TBG deficiency which does not require treatment, but the decreased thyroxine may be misdiagnosed as hypothyroidism. We discovered some variants of TBG caused by alterations that differ from previously reported. MATERIALS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33554479
DOI: 10.1002/mgg3.1571
PMCID: PMC8077092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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