Varaico: Literature-Extracted Genetic Variants

Gene:MATN3
Variant:p.A191D
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MATN3

NM_002381.5:p.A191D

Associated Papers

From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.

Dennis EP et al.

International Journal of Molecular Sciences, 2025

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._

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

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