Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.L8_T11delFs
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P3H1

NM_022356.4:p.L8_T11delFs

Associated Papers

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."