Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.S396R
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MMP2

NM_004530.6:p.S396R

Associated Papers

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.

Ahmad S et al.

Bone Reports, 2024

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.

Ishaq T et al.

Bmc Musculoskeletal Disorders, 2023

A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy.

Kröger L et al.

Molecular Genetics & Genomic Medicine, 2019

Mutation in MMP2 gene may result in scleroderma-like skin thickening.

Bader-Meunier B et al.

Annals of the Rheumatic Diseases, 2016

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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."