Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.H373D
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CTCF

NM_006565.4:p.H373D

Associated Papers

Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.

Valverde de Morales HG et al.

American Journal of Medical Genetics. Part A, 2023

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

Price E et al.

Frontiers in Molecular Neuroscience, 2023

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

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

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."