Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5C
Variant:p.D85_V87del0
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PPP2R5C

NM_001161725.2:p.D85_V87del0

Associated Papers

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Verbinnen I et al.

American Journal of Human Genetics, 2025

Phenotype and genetic analysis of data collected within the first year of NeuroDev.

Kipkemoi P et al.

Neuron, 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."