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    Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

    Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic all... by Akash Mathavan, Akshay Mathavan, Urszula Krekora, Adityanarayan Rao, Marc S. Zumberg, Jeb Justice, Pinar Bayrak-Toydemir, Jamie McDonald, Ali Ataya

    Published 2025-03-01
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