Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G814E
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COL1A2

NM_000089.4:p.G814E

Associated Papers

Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.

Chen P et al.

Orphanet Journal of Rare Diseases, 2022

35765008 (PubMed )
Supplement: 13023_2022_2394_MOESM3_ESM.pdf

Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.

Chen P et al.

Frontiers in Genetics, 2022

35154279 (PubMed )
Supplement: Table1.XLSX › 187_patients

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

Zhang H et al.

Molecular Medicine Reports, 2016

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