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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD46

Variant:p.Y183_S190delFs

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CD46

NM_172351.3:p.Y183_S190delFs

hg38:chr1:207761317 GAGTATCTTGATGCAGTAACTTAT>G

Associated Papers

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

Germanaud D et al.

Clinical Genetics, 2011

20950397 (PubMed )

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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."