Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.H373P
Back to variants list

CTCF

NM_006565.4:p.H373P

Associated Papers

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

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

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Kurki MI et al.

Nature Communications, 2019

30679432 (PubMed )
Supplement: 41467_2018_8262_MOESM5_ESM.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."