Varaico: Literature-Extracted Genetic Variants

Gene:COLEC10
Variant:p.G80D
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COLEC10

NM_006438.5:p.G80D

Associated Papers

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

Çetinkaya D et al.

American Journal of Medical Genetics. Part A, 2026

Clinical associations of complement-activating collectins, collectin-10, collectin-11 and mannose-binding lectin in preterm neonates.

Gajek G et al.

Frontiers in Immunology, 2024

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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."