Varaico: Literature-Extracted Genetic Variants

Gene:SERPINF1
Variant:p.W217*
Back to variants list

SERPINF1

NM_002615.7:p.W217*

Associated Papers

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

Demir K et al.

Odontology, 2025

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Mrosk J et al.

Bone, 2018

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

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.

Caparrós-Martin JA et al.

American Journal of Medical Genetics. Part A, 2013

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."