Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.I276T
Back to variants list

ACVRL1

NM_000020.3:p.I276T

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

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Prigoda NL et al.

Journal of Medical Genetics, 2006

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

Abdalla SA et al.

Human Mutation, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."