Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.G410R
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MMP2

NM_004530.6:p.G410R

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

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

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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."