Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.L1312_L1313insFs
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ABCC6

NM_001171.6:p.L1312_L1313insFs

Associated Papers

ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease.

Kitahara S et al.

Scientific Reports, 2026

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.

Uemura M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

36261288 (PubMed )
Supplement: jnnp-2022-329917supp001.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."