Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.T244T
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FKBP10

NM_021939.4:p.T244T

Associated Papers

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."