Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB7A
Variant:p.R399L
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ZBTB7A

NM_015898.4:p.R399L

Associated Papers

Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1.

Lee WS et al.

The Embo Journal, 2021

De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.

Ohishi A et al.

Journal of Human Genetics, 2020

Somatic human ZBTB7A zinc finger mutations promote cancer progression.

Liu XS et al.

Oncogene, 2016

ZBTB7A acts as a tumor suppressor through the transcriptional repression of glycolysis.

Liu XS et al.

Genes & Development, 2014

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

Nikolaev SI et al.

Cancer Research, 2012

23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv
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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."