Varaico: Literature-Extracted Genetic Variants

Gene:BMP5
Variant:p.H2D
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BMP5

NM_021073.4:p.H2D

Associated Papers

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Gregersen PA et al.

Clinical Genetics, 2025

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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."