Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.H373L
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CTCF

NM_006565.4:p.H373L

Associated Papers

Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.

Garrido-Torres N et al.

European Child & Adolescent Psychiatry, 2024

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

Price E et al.

Frontiers in Molecular Neuroscience, 2023

CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Zhou R et al.

Iscience, 2022

36117989 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Structure-function relationships explain CTCF zinc finger mutation phenotypes in cancer.

Bailey CG et al.

Cellular and Molecular Life Sciences : Cmls, 2021

34657170 (PubMed )
Supplement: 18_2021_3946_MOESM1_ESM.xls › cBIO_COSMIC_published

Genomic mutation features identify distinct BRCA-associated mutation characteristics in endometrioid carcinoma and endometrioid ovarian carcinoma.

Cao C et al.

Aging, 2021

34837690 (PubMed )
Supplement: aging-13-203710-s004.xlsx › Sheet1

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

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM13_ESM.xlsx › Supplementary_Data_11

Novel CTCF mutations in Chinese patients with ovarian endometriosis.

Guo J et al.

Molecular Medicine Reports, 2018

High frequency strand slippage mutations in CTCF in MSI-positive endometrial cancers.

Zighelboim I et al.

Human Mutation, 2014

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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."