Varaico: Literature-Extracted Genetic Variants

Gene:PPP3CA
Variant:p.T429fs
Back to variants list

PPP3CA

NM_000944.5:p.T429fs

Associated Papers

New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy.

Wang T et al.

Frontiers in Neuroscience, 2025

Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.

Ji W et al.

Clinical Genetics, 2024

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Elkhateeb N et al.

Clinical Genetics, 2024

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Scheffer IE et al.

Developmental Medicine and Child Neurology, 2023

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.

Panneerselvam S et al.

Clinical Genetics, 2021

Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report.

Yang S et al.

Bmc Pediatrics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."