Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.Y1347C
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DUOX2

NM_001363711.2:p.Y1347C

Associated Papers

Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.

Uehara E et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.

Chiesa AE et al.

Frontiers in Endocrinology, 2021

34484109 (PubMed )
Supplement: DataSheet_1.pdf

Disorders of H2O2 generation.

Muzza M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

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 disorders coupled to ROS deficiency.

O'Neill S et al.

Redox Biology, 2015

Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelic DUOX2 mutations.

Abe K et al.

Clinical Endocrinology, 2015

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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."