Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.C90*
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ACVRL1

NM_000020.3:p.C90*

Associated Papers

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

Temel SG et al.

International Journal of Molecular Sciences, 2026

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J et al.

Clinical Genetics, 2011

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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."