Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.V415insFs
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P3H1

NM_022356.4:p.V415insFs

Associated Papers

A new case of osteogenesis imperfecta type VIII and retinal detachment.

de Souza LT et al.

American Journal of Medical Genetics. Part A, 2021

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

Pepin MG et al.

Molecular Genetics & Genomic Medicine, 2013

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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."