Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.V218delFs
Back to variants list

SERPINF1

NM_002615.7:p.V218delFs

Associated Papers

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

Wang JY et al.

Calcified Tissue International, 2017

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

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

Minillo RM et al.

Molecular Syndromology, 2014

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Shaheen R et al.

Journal of Medical Genetics, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."