Varaico: Literature-Extracted Genetic Variants

Gene:FKBP10
Variant:p.S306Splc
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FKBP10

NM_021939.4:p.S306Splc

Associated Papers

Clinical features and molecular characterization of Chinese patients with FKBP10 variants.

Tan Z et al.

Molecular Genetics & Genomic Medicine, 2023

Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.

Chen P et al.

Orphanet Journal of Rare Diseases, 2022

35765008 (PubMed )
Supplement: 13023_2022_2394_MOESM3_ESM.pdf

Absence of heterozygosity detected by single-nucleotide polymorphism array in prenatal diagnosis.

Liu J et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.

Xu XJ et al.

Journal of Human Genetics, 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."