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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CUL7

Variant:p.E1152K

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CUL7

NM_014780.5:p.E1152K

hg38:chr6:43043082 C>T

Associated Papers

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

Hanson D et al.

Journal of Molecular Endocrinology, 2012

23018678 (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."