Associated Papers
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.
Lopez-de la Rosa A et al.
Orphanet Journal of Rare Diseases, 2024
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
35044492 (PubMed )
Supplement: 198_2021_6263_MOESM3_ESM.xlsx › COL1A2_HGMD_data
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Genetic screening of a pedigree with osteogenesis imperfecta type Ⅰ and identification of a novel mutation in COL1A2 pathogenic gene.
Li R et al.
Yi Chuan = Hereditas, 2015
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