Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.D180N
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MMP2

NM_004530.6:p.D180N

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

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.

Ekbote AV et al.

Journal of Clinical Research in Pediatric Endocrinology, 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."