Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.R279C
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DROSHA

NM_001382508.1:p.R279C

Associated Papers

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

Deregulation of Drosha in the pathogenesis of hereditary hemorrhagic telangiectasia.

Hata A et al.

Current Opinion in Hematology, 2019

Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors.

Wegert J et al.

Cancer Cell, 2015

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf
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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."