Varaico: Literature-Extracted Genetic Variants

Gene:COLEC11
Variant:p.S169P
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COLEC11

NM_024027.5:p.S169P

Associated Papers

Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.

Gajek G et al.

International Journal of Molecular Sciences, 2020

Human collectin-11 (COLEC11) and its synergic genetic interaction with MASP2 are associated with the pathophysiology of Chagas Disease.

Sandri TL et al.

Plos Neglected Tropical Diseases, 2019

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

Gardner OK et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2017

Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.

Venkatraman Girija U et al.

Bmc Biology, 2015

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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."