Varaico: Literature-Extracted Genetic Variants

Gene:PPIB
Variant:p.Q151*
Back to variants list

PPIB

NM_000942.5:p.Q151*

Associated Papers

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

Zhu W et al.

Frontiers in Genetics, 2021

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2

PPIB mutations cause severe osteogenesis imperfecta.

van Dijk FS et al.

American Journal of Human Genetics, 2009

Classification of Osteogenesis Imperfecta revisited.

Van Dijk FS et al.

European Journal of Medical Genetics, 0

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."