Varaico: Literature-Extracted Genetic Variants

Gene:PHF21A
Variant:p.Q675fs
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PHF21A

NM_001101802.3:p.Q675fs

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

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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."