Varaico: Literature-Extracted Genetic Variants

Gene:DUOX2
Variant:p.F353delFs
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DUOX2

NM_001363711.2:p.F353delFs

Associated Papers

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

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

[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].

Enacán RE et al.

Archivos Argentinos De Pediatria, 2017

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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."