Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.A117P
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P3H1

NM_022356.4:p.A117P

Associated Papers

Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.

Misof BM et al.

Calcified Tissue International, 2024

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.

Besio R et al.

Disease Models & Mechanisms, 2019

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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."