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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S10.xls › Sheet1
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1
ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia.
Argyriou L et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2005
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
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