Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.L108_Y109insFs
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SERPINF1

NM_002615.7:p.L108_Y109insFs

Associated Papers

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.

Wang JY et al.

Calcified Tissue International, 2017

Two years' experience with denosumab for children with osteogenesis imperfecta type VI.

Hoyer-Kuhn H et al.

Orphanet Journal of Rare Diseases, 2014

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J et al.

American Journal of Human Genetics, 2011

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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."