Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.R1128H
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DUOX2

NM_001363711.2:p.R1128H

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.

Sumalde AAM et al.

Genes, 2023

37107589 (PubMed )
Supplement: genes-14-00831-s001.zip › genes-2300342-suppl-new › GenesPediatricVestibular_TableS3.xlsx › Sheet1

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S4-final_16052022.xlsx › Table_4B

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

Park KJ et al.

Annals of Laboratory Medicine, 2016

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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."