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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL18A1

Variant:p.R90C

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COL18A1

NM_001379500.1:p.R90C

hg38:chr21:45468403 C>T

Associated Papers

Serum NOTCH3 Extracellular Domain in Patients With CADASIL.

Kim H et al.

Neurology. Genetics, 2025

41181281 (PubMed )

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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."