Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P21delFs
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ENG

NM_001114753.3:p.P21delFs

Associated Papers

Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children.

Giordano P et al.

The Journal of Pediatrics, 2013

Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Govani FS et al.

Molecular Syndromology, 2013

Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.

Giordano P et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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

Abdalla SA et al.

Journal of Medical Genetics, 2006

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM et al.

Human Mutation, 2006

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Abdalla SA et al.

Human Mutation, 2005

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."