Varaico: Literature-Extracted Genetic Variants

Gene:IRS4
Variant:p.S185*
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IRS4

NM_001379150.1:p.S185*

Associated Papers

A Novel X-Linked Variant c.1772delG (p.G591fs*20) in IRS4 in Two Related Patients with Central Hypothyroidism.

Köprülü Ö et al.

Molecular Syndromology, 2025

Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.

Lauffer P et al.

Thyroid : Official Journal of the American Thyroid Association, 2023

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.

Naafs JC et al.

European Journal of Endocrinology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."