Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.L1114delFs
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DUOX2

NM_001363711.2:p.L1114delFs

Associated Papers

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.

Park KS

Genes, 2021

34200080 (PubMed )
Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S6

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

Sorapipatcharoen K et al.

Endocrine Connections, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM15_ESM.xlsx › S8

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

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

Fu C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

[Genetic analysis for 5 congenital hypothyroidism patients due to dyshormonogenesis].

Fu CY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.

Fu C et al.

Journal of Endocrinological Investigation, 2015

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