Varaico: Literature-Extracted Genetic Variants

Gene:BMP1
Variant:p.F266fs
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BMP1

NM_006129.5:p.F266fs

Associated Papers

High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.

Campanini EH et al.

Bone Reports, 2021

Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.

Choksi IN 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, 2021

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.

Sangsin A et al.

Bmc Medical Genetics, 2017

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