Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.T627A
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ZBTB20

NM_001348800.3:p.T627A

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

Unique skeletal manifestations in patients with Primrose syndrome.

Arora V et al.

European Journal of Medical Genetics, 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

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Cleaver R 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."