Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.T168M
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DUOXA1

NM_001276265.1:p.T168M

Associated Papers

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 2025

41088366 (PubMed )
Supplement: 12967_2025_7027_MOESM1_ESM.xlsx › S5

Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.

Chen Z et al.

Frontiers in Neurology, 2023

37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1

Immunogenetics associated with severe coccidioidomycosis.

Hsu AP et al.

Jci Insight, 2022

36166305 (PubMed )
Supplement: jciinsight-7-159491-s273.pdf

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

Zhang RJ et al.

Clinical Endocrinology, 2022

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Qin W et al.

Human Molecular Genetics, 2021

33835157 (PubMed )
Supplement: supplementary_tables_ddab090.xlsx › Supplementary_Table_2

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.

Wang F et al.

Frontiers in Endocrinology, 2020

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