Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.A338T
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COL1A2

NM_000089.4:p.A338T

Associated Papers

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

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

Stephen J et al.

American Journal of Medical Genetics. Part A, 2014

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