Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.Y316insFs
Back to variants list

FKBP10

NM_021939.4:p.Y316insFs

Associated Papers

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.

Zhang H et al.

International Journal of Molecular Medicine, 2018

Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.

Xu XJ et al.

Journal of Human Genetics, 2017

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.

Umair M et al.

Journal of Human Genetics, 2016

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Schwarze U et al.

Human Molecular Genetics, 2013

Recent advances in osteogenesis imperfecta.

Cundy T

Calcified Tissue International, 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."