Varaico: Literature-Extracted Genetic Variants

Gene:PPIB
Variant:p.M9V
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PPIB

NM_000942.5:p.M9V

Associated Papers

Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system.

Yang Y et al.

Molecular Genetics and Genomics : Mgg, 2022

Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX.

Jiang Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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

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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."