Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.R78fs
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ACVRL1

NM_000020.3:p.R78fs

Associated Papers

Prenatal discovery of hereditary hemorrhagic telangiectasia-associated hepatic arteriovenous malformations by multimodal ultrasound and whole-exome sequencing: a rare case description and literature analysis.

Liu X et al.

Quantitative Imaging in Medicine and Surgery, 2025

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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."