Varaico: Literature-Extracted Genetic Variants

Gene:DUOX1
Variant:p.Q650*
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DUOX1

NM_175940.3:p.Q650*

Associated Papers

Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.

Jurgens JA et al.

Investigative Ophthalmology & Visual Science, 2025

40162949 (PubMed )
Supplement: iovs-66-3-62_s002.xlsx › Supp_Table1

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.

Jurgens JA et al.

Biorxiv : the Preprint Server for Biology, 2024

39314366 (PubMed )
Supplement: media-2.xlsx › Supp_Table1

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_3

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

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4
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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."