Associated Papers
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Hereditary hemorrhagic telangiectasia in Japanese patients.
Komiyama M et al.
Journal of Human Genetics, 2014
A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation.
Akagawa H et al.
Neurology India, 0
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