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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CUL7

Variant:p.W1453_E1455insFs

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CUL7

NM_014780.5:p.W1453_E1455insFs

hg38:chr6:43038918 T>TCAGCC

Associated Papers

Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations.

Hasegawa K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

26488604 (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."