Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.R613C
Back to variants list

ZBTB20

NM_001348800.3:p.R613C

Associated Papers

Structural insights into ZBTB20 action at the AFP promoter.

Yang L et al.

Structure (london, England : 1993), 2025

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.

Li J et al.

Molecular Genetics & Genomic Medicine, 2024

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

Juven A et al.

European Journal of Human Genetics : Ejhg, 2020

Primrose syndrome: Characterization of the phenotype in 42 patients.

Melis D et al.

Clinical Genetics, 2020

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

Yamamoto-Shimojima K et al.

American Journal of Medical Genetics. Part A, 2020

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Alby C et al.

American Journal of Medical Genetics. Part A, 2018

Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.

Rodriguez Almaraz E et al.

Neuro-oncology Advances, 0

40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › Table_S2
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."