Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A5
Variant:p.R376W
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SLC5A5

NM_000453.3:p.R376W

Associated Papers

Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.

Martín M et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.

Wang H et al.

Molecular Medicine Reports, 2020

32319661 (PubMed )
Supplement: Supplementary_Data7.pdf

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S7

Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.

Maruo Y et al.

European Journal of Endocrinology, 2016

Genetic causes of congenital hypothyroidism due to dyshormonogenesis.

Grasberger H et al.

Current Opinion in Pediatrics, 2011

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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."