Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.R12H
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EYA1

NM_000503.6:p.R12H

Associated Papers

Whole-Exome Sequencing on Circulating Tumor Cells Explores Platinum-Drug Resistance Mutations in Advanced Non-small Cell Lung Cancer.

Chang Y et al.

Frontiers in Genetics, 2021

34616428 (PubMed )
Supplement: Table_3.XLSX › C1904975

Genomic signatures reveal DNA damage response deficiency in colorectal cancer brain metastases.

Sun J et al.

Nature Communications, 2019

31320627 (PubMed )
Supplement: 41467_2019_10987_MOESM6_ESM.xlsx › Sheet1

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Huang X et al.

International Journal of Molecular Medicine, 2015

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 0

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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."