Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.R104*
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FKBP10

NM_021939.4:p.R104*

Associated Papers

Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.

Holtz AP et al.

Bone, 2023

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA et al.

Molecular Genetics & Genomic Medicine, 2017

Does the Skeletal Phenotype of Osteogenesis Imperfecta Differ for Patients With Non-COL1A1/2 Mutations? A Retrospective Study in 113 Patients.

Zerfu T et al.

Journal of Pediatric Orthopedics, 0

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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."