Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.S1483_V1484delFs
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CUL7

NM_014780.5:p.S1483_V1484delFs

Associated Papers

3M syndrome: A Tunisian seven-cases series.

Khachnaoui-Zaafrane K et al.

European Journal of Medical Genetics, 2022

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

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

22908982 (PubMed )
Supplement: 1750-1172-7-52-S2.xlsx › Feuil1

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."