Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.R279L
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DROSHA

NM_001382508.1:p.R279L

Associated Papers

Essential role of the amino-terminal region of Drosha for the Microprocessor function.

Prabhakar A et al.

Iscience, 2023

Molecular Biomarkers and Drug Targets in Brain Arteriovenous and Cavernous Malformations: Where Are We?

Venugopal V et al.

Stroke, 2022

Differential Expression of Circulating Plasma miRNA-370 and miRNA-10a from Patients with Hereditary Hemorrhagic Telangiectasia.

Ruiz-Llorente L et al.

Journal of Clinical Medicine, 2020

Recent Advances in Basic Research for Brain Arteriovenous Malformation.

Barbosa Do Prado L et al.

International Journal of Molecular Sciences, 2019

Deregulation of Drosha in the pathogenesis of hereditary hemorrhagic telangiectasia.

Hata A et al.

Current Opinion in Hematology, 2019

Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia.

Jiang X et al.

Science Signaling, 2018

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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."