Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.P277delFs
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FKBP10

NM_021939.4:p.P277delFs

Associated Papers

Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Demir K et al.

Odontology, 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

Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.

Chetty M et al.

Bdj Open, 2019

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

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

Vorster A et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 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."