Varaico: Literature-Extracted Genetic Variants

Gene:PPP1CB
Variant:p.D252Y
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PPP1CB

NM_002709.3:p.D252Y

Associated Papers

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

Ji W et al.

Clinical Genetics, 2024

Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome.

He X et al.

Frontiers in Behavioral Neuroscience, 2022

The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.

Vaneynde P et al.

Frontiers in Cell and Developmental Biology, 2022

Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

Lin CH et al.

Bmc Neurology, 2018

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Ma L et al.

Human Genetics, 2016

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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."