Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.C53*
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ENG

NM_001114753.3:p.C53*

Associated Papers

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Bernabéu-Herrero ME et al.

Blood, 2024

38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.pdf

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA et al.

Journal of Medical Genetics, 2006

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG et al.

Human Genetics, 2005

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