Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.K429delFs
Back to variants list

MMP2

NM_004530.6:p.K429delFs

Associated Papers

Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.

Aleem T et al.

European Journal of Human Genetics : Ejhg, 2025

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 and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Bhavani GS et al.

American Journal of Medical Genetics. Part A, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."