Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.E271_T272delFs
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FKBP10

NM_021939.4:p.E271_T272delFs

Associated Papers

The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta.

Zhou S et al.

Genes, 2025

Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up.

Xi L et al.

Frontiers in Genetics, 2021

Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.

Lv S et al.

Frontiers in Cell and Developmental Biology, 2021

34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1

Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.

Zhang H et al.

International Journal of Molecular Medicine, 2018

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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."