Varaico: Literature-Extracted Genetic Variants

Gene:PPIB
Variant:p.D188fs
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PPIB

NM_000942.5:p.D188fs

Associated Papers

A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX.

Zhu W et al.

Frontiers in Genetics, 2021

Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.

Barnes AM et al.

Human Mutation, 2012

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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."