Varaico: Literature-Extracted Genetic Variants

Gene:MATN3
Variant:p.V220A
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MATN3

NM_002381.5:p.V220A

Associated Papers

Genetics of short stature.

Nicolae R et al.

Current Opinion in Pediatrics, 2025

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.

Cho TJ et al.

European Journal of Medical Genetics, 2024

Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.

Pretemer Y et al.

Stem Cell Reports, 2021

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."