Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.H68Fs
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FKBP10

NM_021939.4:p.H68Fs

Associated Papers

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

Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.

Seyedhassani SM et al.

Fetal and Pediatric Pathology, 2016

Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.

Moravej H et al.

Endokrynologia Polska, 2015

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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."