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
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
32842921 (PubMed )
Supplement: str_stroke-2020-029517_supp1.pdf
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-s3.xls › NovelVar
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
Giorgio E et al.
Journal of the Neurological Sciences, 2015
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