Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A7
Variant:p.Q500*
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SLC26A7

NM_052832.4:p.Q500*

Associated Papers

Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect.

Hirano Y et al.

European Journal of Endocrinology, 2025

Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.

Sciarroni E et al.

Italian Journal of Pediatrics, 2024

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Park KS

Genes, 2021

34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S10

Defects in protein folding in congenital hypothyroidism.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2020

Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.

Ishii J et al.

Communications Biology, 2019

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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."