Varaico: Literature-Extracted Genetic Variants

Gene:BMPER
Variant:p.M1insFs
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BMPER

NM_001365308.1:p.M1insFs

Associated Papers

Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.

Arredondo Montero J et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."