Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Q83*
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ENG

NM_001114753.3:p.Q83*

Associated Papers

Tacrolimus in Gastrointestinal Bleeding in a Young Boy With Hereditary Hemorrhagic Telangiectasia.

Pruijsen JM et al.

Jpgn Reports, 2021

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.

Yang H et al.

Respiratory Research, 2018

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Leinøe E et al.

British Journal of Haematology, 2017

28748566 (PubMed )
Supplement: BJH-179-308-s001.docx

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

Govani FS et al.

Molecular Syndromology, 2013

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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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."