Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.C277_E278insFs
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CRTAP

NM_006371.5:p.C277_E278insFs

Associated Papers

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Alanay Y et al.

American Journal of Human Genetics, 2010

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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."