Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G833V
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COL1A1

NM_000088.4:p.G833V

Associated Papers

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Senturk L et al.

Fetal Diagnosis and Therapy, 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_MOESM2_ESM.xlsx › COL1A1_HGMD_data
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