Varaico: Literature-Extracted Genetic Variants

Gene:COL22A1
Variant:p.P989L
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COL22A1

NM_152888.3:p.P989L

Associated Papers

Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms.

Ton QV et al.

Disease Models & Mechanisms, 2018

30541770 (PubMed )
Supplement: dmm-11-033654-s1.pdf
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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."