Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.M461_S463insFs
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P3H1

NM_022356.4:p.M461_S463insFs

Associated Papers

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.

Fratzl-Zelman N et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.

Pepin MG et al.

Molecular Genetics & Genomic Medicine, 2013

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

Marini JC et al.

Cell and Tissue Research, 2010

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D et al.

Human Mutation, 2008

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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."