Varaico: Literature-Extracted Genetic Variants

Gene:DUOX1
Variant:p.R1219Q
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DUOX1

NM_175940.3:p.R1219Q

Associated Papers

Immunogenetics associated with severe coccidioidomycosis.

Hsu AP et al.

Jci Insight, 2022

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

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

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Castilla-Vallmanya L et al.

International Journal of Molecular Sciences, 2021

33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table1_Patient_1_Variants.xlsx › Sheet1

Exome sequencing in patients with chronic central serous chorioretinopathy.

Schellevis RL et al.

Scientific Reports, 2019

31036833 (PubMed )
Supplement: 41598_2019_43152_MOESM1_ESM.pdf

Intratumor heterogeneity comparison among different subtypes of non-small-cell lung cancer through multi-region tissue and matched ctDNA sequencing.

Zhang Y et al.

Molecular Cancer, 2019

30626401 (PubMed )
Supplement: 12943_2019_939_MOESM10_ESM.xlsx › Dataset_2

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
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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."