Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.L1130_R1133delFs
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CUL7

NM_014780.5:p.L1130_R1133delFs

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

3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.

Karacan Küçükali G et al.

European Journal of Medical Genetics, 2023

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

Lugli L et al.

European Journal of Medical Genetics, 2016

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

Meazza C et al.

Italian Journal of Pediatrics, 2013

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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."