Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.A131Splc
Back to variants list

FKBP10

NM_021939.4:p.A131Splc

Associated Papers

Seropositive rheumatoid arthritis in osteogenesis imperfecta type XI (FKBP10 mutation): first case report and literature review.

Manhal A et al.

Orphanet Journal of Rare Diseases, 2026

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Jarayseh T et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.

Merkuryeva ES et al.

Genes, 2024

New insights on the clinical variability of FKBP10 mutations.

Essawi OH et al.

European Journal of Medical Genetics, 2020

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O et al.

Molecular Genetics & Genomic Medicine, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."