Associated Papers
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Ha TT et al.
American Journal of Medical Genetics. Part A, 2016
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Verbeek E et al.
European Journal of Human Genetics : Ejhg, 2012
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Jeanne M et al.
American Journal of Human Genetics, 2012
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