Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.W1127delFs
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CUL7

NM_014780.5:p.W1127delFs

Associated Papers

3-M syndrome: evolution of the phenotype over time.

Bacchi I et al.

Italian Journal of Pediatrics, 2025

41437277 (PubMed )
Supplement: 13052_2025_2172_MOESM1_ESM.xlsx › S1_CUL7

Pre- and post-natal growth in two sisters with 3-M syndrome.

Lugli L et al.

European Journal of Medical Genetics, 2016

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

The 3M syndrome.

Huber C et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.

Hanson D et al.

Hormone Research in Paediatrics, 2011

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Huber C et al.

European Journal of Human Genetics : Ejhg, 2009

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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."