Associated Papers
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-79CT
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Genetic Screening of Pediatric Cavernous Malformations.
Merello E et al.
Journal of Molecular Neuroscience : Mn, 2016
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.
Milne RL et al.
Human Molecular Genetics, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R et al.
Plos One, 2014
Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
D'Angelo R et al.
Biomed Research International, 2013
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.
D'Angelo R et al.
International Journal of Molecular Medicine, 2012
Mutations within the MGC4607 gene cause cerebral cavernous malformations.
Denier C et al.
American Journal of Human Genetics, 2004
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