Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.A1138D
Back to variants list

DUOX2

NM_001363711.2:p.A1138D

Associated Papers

Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.

Long W et al.

International Journal of Endocrinology, 2020

32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1

Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.

Fan X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

Disorders of H2O2 generation.

Muzza M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

Fu C et al.

Bmj Open, 2016

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.

Fu C et al.

Journal of Endocrinological Investigation, 2015

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."