Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.V1252fs
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CUL7

NM_014780.5:p.V1252fs

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

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.

Liu W et al.

Orphanet Journal of Rare Diseases, 2023

Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.

Hu L et al.

Journal of Clinical Laboratory Analysis, 2020

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