Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.I318fs
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CUL4B

NM_001079872.2:p.I318fs

Associated Papers

Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys.

Lin L et al.

Frontiers in Neuroscience, 2025

Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene.

Guan J et al.

Stem Cell Research, 2019

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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."