Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.E27fs
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SERPINF1

NM_002615.7:p.E27fs

Associated Papers

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

Demir K et al.

Odontology, 2025

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.

Chen P et al.

Orphanet Journal of Rare Diseases, 2023

37730650 (PubMed )
Supplement: 13023_2023_2906_MOESM2_ESM.xlsx › Sheet1

Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.

Chen P et al.

Orphanet Journal of Rare Diseases, 2022

35765008 (PubMed )
Supplement: 13023_2022_2394_MOESM3_ESM.pdf

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."