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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDHR2

Variant:p.V796_N797delFs

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CDHR2

NM_017675.6:p.V796_N797delFs

hg38:chr5:176584666 CGTGA>C

Associated Papers

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Kurotaki N et al.

Human Mutation, 2003

14517949 (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."