Varaico: Literature-Extracted Genetic Variants

Gene:CTCFL
Variant:p.R368H
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CTCFL

NM_001386993.1:p.R368H

Associated Papers

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

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Kondelin J et al.

Embo Molecular Medicine, 2018

30108113 (PubMed )
Supplement: EMMM-10-e8552-s008.xlsx › Sheet1

Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.

Kang G et al.

Plos One, 2013

24376576 (PubMed )
Supplement: pone.0082770.s002.xls › S2
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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."