Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5D
Variant:p.H209Y
Back to variants list

PPP2R5D

NM_006245.4:p.H209Y

Associated Papers

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).

Wu R et al.

Frontiers in Neurology, 2025

41170324 (PubMed )
Supplement: Data_Sheet_1.XLS › NDD-NPDs

Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.

Wu R et al.

Orphanet Journal of Rare Diseases, 2024

38764027 (PubMed )
Supplement: 13023_2024_3214_MOESM1_ESM.xls › Sheet1
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."