Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D439E
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COMP

NM_000095.3:p.D439E

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

Genetic variations in pseudoachondroplasia: a review of case reports.

Petryka L et al.

Laboratory Medicine, 2025

Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.

Liang H et al.

Calcified Tissue International, 2022

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Guo BB et al.

Biomed Research International, 2021

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