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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRTAP

Variant:p.R107fs

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CRTAP

NM_006371.5:p.R107fs

hg38:chr3:33114396 CGC>N

Associated Papers

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

van Dijk FS et al.

European Journal of Human Genetics : Ejhg, 2012

21829228 (PubMed )

Supplement: ejhg2011141x1.doc

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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."