Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G594R
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COL2A1

NM_001844.5:p.G594R

Associated Papers

Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Huang Z et al.

Jama Network Open, 2023

37014641 (PubMed )
Supplement: jamanetwopen-e236537-s001.pdf

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Akahira-Azuma M et al.

Human Genome Variation, 2022

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

Markova T et al.

Genes, 2022

35052477 (PubMed )
Supplement: genes-13-00137-s001.zip › Tables_with_mutations_in_COL2A1_gene_2.pdf
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