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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMPER

Variant:p.V389G

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BMPER

NM_001365308.1:p.V389G

hg38:chr7:34078944 T>G

Associated Papers

A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis.

Daşar T et al.

European Journal of Medical Genetics, 2024

38355094 (PubMed )

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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."