Varaico: Literature-Extracted Genetic Variants

Gene:COLEC11
Variant:p.S217del1
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COLEC11

NM_024027.5:p.S217del1

Associated Papers

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

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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."