Varaico: Literature-Extracted Genetic Variants

Gene:PPIB
Variant:p.K186fs
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PPIB

NM_000942.5:p.K186fs

Associated Papers

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

Storoni S et al.

Physiological Reports, 2023

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."