Varaico: Literature-Extracted Genetic Variants

Gene:BMP1
Variant:p.Y431*
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BMP1

NM_006129.5:p.Y431*

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

Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.

Xu XJ et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.

Pollitt RC et al.

American Journal of Medical Genetics. Part A, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."