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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BMPER

Variant:p.A9_E12delFs

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BMPER

NM_001365308.1:p.A9_E12delFs

hg38:chr7:33905638 GCTCTGGCTGA>G

Associated Papers

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

Funari VA et al.

American Journal of Human Genetics, 2010

20869035 (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."