Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.H297delFs
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ACVRL1

NM_000020.3:p.H297delFs

Associated Papers

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Kong XF et al.

Scientific Reports, 2023

38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort

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

Reduced plasma levels of Ang-2 and sEng as novel biomarkers in hereditary hemorrhagic telangiectasia (HHT).

Ojeda-Fernandez L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

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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."