Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G1030S
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COL1A2

NM_000089.4:p.G1030S

Associated Papers

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
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