Varaico: Literature-Extracted Genetic Variants

Gene:BMP1
Variant:p.L505F
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BMP1

NM_006129.5:p.L505F

Associated Papers

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.

Caengprasath N et al.

Journal of Translational Medicine, 2021

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.

Besio R et al.

The Febs Journal, 2019

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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."