Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.R1440*
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CUL7

NM_014780.5:p.R1440*

Associated Papers

3M syndrome with novel CUL7 variants in a Chinese patient: a case report.

Liu H et al.

Frontiers in Pediatrics, 2025

41234413 (PubMed )
Supplement: Table1.xlsx › Table_1

Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.

Fang D et al.

Frontiers in Genetics, 2024

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

Hu X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

The 3M syndrome.

Huber C et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

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

Huber C et al.

European Journal of Human Genetics : Ejhg, 2009

Identification of mutations in CUL7 in 3-M syndrome.

Huber C et al.

Nature Genetics, 2005

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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."