Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT1
Variant:p.G377R
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COLGALT1

NM_024656.4:p.G377R

Associated Papers

Molecular basis of collagen galactosylation by GLT25D1.

Sun H et al.

Nature Communications, 2026

Molecular structure and enzymatic mechanism of the human collagen hydroxylysine galactosyltransferase GLT25D1/COLGALT1.

De Marco M et al.

Nature Communications, 2025

Young-Onset Cerebral Small Vessel Disease Associated with COLGALT1 Mutation.

Maramattom BV

Annals of Indian Academy of Neurology, 2025

Biallelic COLGALT1 variants are associated with cerebral small vessel disease.

Miyatake S et al.

Annals of Neurology, 2018

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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."