Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.V220Splc
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MMP2

NM_004530.6:p.V220Splc

Associated Papers

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

Ishaq T et al.

Bmc Musculoskeletal Disorders, 2023

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.

Pichler K et al.

Scientific Reports, 2016

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Bhavani GS et al.

American Journal of Medical Genetics. Part A, 2016

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.

Azzollini J et al.

Journal of Human Genetics, 2014

Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis: case report and literature review.

Castberg FC et al.

European Journal of Pediatrics, 2013

A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.

Jeong SY et al.

Journal of Human Genetics, 2010

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.

Gok F et al.

European Journal of Pediatrics, 2010

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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."