Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.H255_L258ins1
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FKBP10

NM_021939.4:p.H255_L258ins1

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

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

Umair M et al.

Journal of Human Genetics, 2016

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.

Zhou P et al.

Plos One, 2014

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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."