Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.K258_K259delFs
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CTCF

NM_006565.4:p.K258_K259delFs

Associated Papers

An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.

Price E et al.

Frontiers in Molecular Neuroscience, 2023

37324587 (PubMed )
Supplement: Table_2.xlsx › snvs_all

Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants.

Tan B et al.

Frontiers in Pediatrics, 2023

37664546 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_S3

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1

[Autosomal dominant intellectual disability type 21 in a neonate].

Chen L et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM11_ESM.xlsx › Supplementary_Data_9

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Konrad EDH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."