Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.C580Y
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ZBTB20

NM_001348800.3:p.C580Y

Associated Papers

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Héron D et al.

Brain : a Journal of Neurology, 2025

40905141 (PubMed )
Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1

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

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

Nguyen T et al.

Prenatal Diagnosis, 2023

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Heide S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Primrose syndrome: Characterization of the phenotype in 42 patients.

Melis D et al.

Clinical Genetics, 2020

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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."