Varaico: Literature-Extracted Genetic Variants

Gene:MASP1
Variant:p.R576M
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MASP1

NM_139125.4:p.R576M

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Gavriilaki E et al.

Current Issues in Molecular Biology, 2022

Beyond the HLA polymorphism: A complex pattern of genetic susceptibility to pemphigus.

Petzl-Erler ML

Genetics and Molecular Biology, 2020

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335

Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44.

Ammitzbøll CG et al.

Plos One, 2013

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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."