Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.G1152D
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COL4A2

NM_001846.4:p.G1152D

Associated Papers

Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Mishra A et al.

Brain : a Journal of Neurology, 2019

30859180 (PubMed )
Supplement: awz024_supplementary_text.pdf

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

Yoneda Y et al.

American Journal of Human Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."