Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.I336fs
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CUL4B

NM_001079872.2:p.I336fs

Associated Papers

Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.

Shan L et al.

Pediatric Research, 2025

40307499 (PubMed )
Supplement: 41390_2025_4085_MOESM1_ESM.xlsx › Sheet1

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

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS et al.

Nature Genetics, 2009

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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."