Varaico: Literature-Extracted Genetic Variants

Gene:BMP1
Variant:p.S418delFs
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BMP1

NM_006129.5:p.S418delFs

Associated Papers

Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta.

Xi L et al.

Molecular Genetics & Genomic Medicine, 2021

Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.

Lv S et al.

Frontiers in Cell and Developmental Biology, 2021

34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1
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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."