Varaico: Literature-Extracted Genetic Variants

Gene:MATN3
Variant:p.L146R
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MATN3

NM_002381.5:p.L146R

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

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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."