Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT1
Variant:p.R471W
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COLGALT1

NM_024656.4:p.R471W

Associated Papers

Molecular basis of collagen galactosylation by GLT25D1.

Sun H et al.

Nature Communications, 2026

Genetic analysis reveals novel variants for vascular cognitive impairment.

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S et al.

Nature, 2013

23665959 (PubMed )
Supplement: NIHMS483564-supplement-1.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."