Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.L337P
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ACVRL1

NM_000020.3:p.L337P

Associated Papers

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.

Jain K et al.

Journal of Clinical Medicine, 2023

38202257 (PubMed )
Supplement: jcm-13-00250-s001.zip › jcm-2748090-supplementary.pdf

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G et al.

Human Mutation, 2004

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