Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.G660insFs
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P3H1

NM_022356.4:p.G660insFs

Associated Papers

Severe cases of osteogenesis imperfecta type VIII due to a homozygous mutation in P3H1 (LEPRE1) and review of the literature.

Bala MM et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2021

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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."