Varaico: Literature-Extracted Genetic Variants

Gene:MMP9
Variant:p.L187F
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MMP9

NM_004994.3:p.L187F

Associated Papers

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

39492681 (PubMed )
Supplement: ART-77-582-s014.pdf

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

Identification of Novel Compound Heterozygous Variants of MMP9 in Fetus With Metaphyseal Anadysplasia Type 2.

Cheng L et al.

Frontiers in Genetics, 2022

Comprehensive analysis of damage associated SNPs of MMP9 gene: A computational approach.

Bhatnager R et al.

Computational Biology and Chemistry, 2018

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Sharony R et al.

Clinical Genetics, 2017

Matrix metalloproteinase-9 genotype as a potential genetic marker for abdominal aortic aneurysm.

Duellman T et al.

Circulation. Cardiovascular Genetics, 2012

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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."