Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.Q342delFs
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ZBTB20

NM_001348800.3:p.Q342delFs

Associated Papers

Primrose syndrome: Characterization of the phenotype in 42 patients.

Melis D et al.

Clinical Genetics, 2020

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.

Stellacci E et al.

Human Mutation, 2018

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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."