Varaico: Literature-Extracted Genetic Variants

Gene:DUOX1
Variant:p.R194G
Back to variants list

DUOX1

NM_175940.3:p.R194G

Associated Papers

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_6

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Sun F et al.

European Journal of Endocrinology, 2018

29650690 (PubMed )
Supplement: eje-178-623-t001.pdf
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."