Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A7
Variant:p.E311delFs
Back to variants list

SLC26A7

NM_052832.4:p.E311delFs

Associated Papers

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

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

Zou M et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."