Varaico: Literature-Extracted Genetic Variants

Gene:MATN3
Variant:p.I192T
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MATN3

NM_002381.5:p.I192T

Associated Papers

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.

Ho TT et al.

Bmc Musculoskeletal Disorders, 2020

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

Kim OH et al.

American Journal of Medical Genetics. Part A, 2011

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.

Mabuchi A et al.

Human Mutation, 2004

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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."