Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.M625V
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ZBTB20

NM_001348800.3:p.M625V

Associated Papers

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: Characterization of the phenotype in 42 patients.

Melis D et al.

Clinical Genetics, 2020

Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.

Ferreira LD et al.

American Journal of Medical Genetics. Part A, 2019

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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."