Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.S360R
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CTCF

NM_006565.4:p.S360R

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

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."