Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.Q272_G273Splc
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COL2A1

NM_001844.5:p.Q272_G273Splc

Associated Papers

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

Viakhireva I et al.

Bone, 2024

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Markova T et al.

Genes, 2022

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