Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.S372F
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CTCF

NM_006565.4:p.S372F

Associated Papers

Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.

Qiao Y et al.

Genes & Diseases, 2025

40212794 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc
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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."