Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.K206fs
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CTCF

NM_006565.4:p.K206fs

Associated Papers

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XJ175

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

[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

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

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.

Chen F et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

Bastaki F et al.

Bmc Medical Genetics, 2017

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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."