Varaico: Literature-Extracted Genetic Variants

Gene:MASP2
Variant:p.D244N
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MASP2

NM_006610.4:p.D244N

Associated Papers

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.

Tuncay IO et al.

Npj Genomic Medicine, 2025

41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.

Crowley E et al.

Gastroenterology, 2020

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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."