Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.L297_D299insFs
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FKBP10

NM_021939.4:p.L297_D299insFs

Associated Papers

FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI.

Vural Topaktaş G et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

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

Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.

Demir S et al.

Genetic Testing and Molecular Biomarkers, 2021

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D et al.

American Journal of Human Genetics, 2019

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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."