Varaico: Literature-Extracted Genetic Variants

Gene:PPIB
Variant:p.K186_T187delFs
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PPIB

NM_000942.5:p.K186_T187delFs

Associated Papers

Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II.

Storoni S et al.

Physiological Reports, 2023

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

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

van Dijk FS et al.

Nederlands Tijdschrift Voor Geneeskunde, 2012

Osteogenesis Imperfecta: A Review with Clinical Examples.

van Dijk FS et al.

Molecular Syndromology, 2011

Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology.

Verdonk SJE et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."