Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.R141insFs
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SERPINF1

NM_002615.7:p.R141insFs

Associated Papers

Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Demir K et al.

Odontology, 2025

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

Wang JY et al.

Calcified Tissue International, 2017

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.

Minillo RM et al.

Molecular Syndromology, 2014

Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.

Cho SY et al.

Journal of Korean Medical Science, 2013

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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."