Varaico: Literature-Extracted Genetic Variants

Gene:PHF21A
Variant:p.K391*
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PHF21A

NM_001101802.3:p.K391*

Associated Papers

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.

Chen H et al.

Seizure, 2023

PHF21A Related Disorder: Description of a New Case.

Butera A et al.

International Journal of Molecular Sciences, 2022

Novel Pathogenic Variant (c.1171A>T) in PHF21A in a Female with Intellectual Disability and Craniofacial Anomalies.

Lee C et al.

Molecular Syndromology, 2022

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

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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."