Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.L117del1
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FKBP10

NM_021939.4:p.L117del1

Associated Papers

Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.

Yüksel Ülker A et al.

Calcified Tissue International, 2021

Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.

Velasco HM et al.

The Application of Clinical Genetics, 2017

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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."