Varaico: Literature-Extracted Genetic Variants

Gene:PPP1CB
Variant:p.H124R
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PPP1CB

NM_002709.3:p.H124R

Associated Papers

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

Ji W et al.

Clinical Genetics, 2024

Genetic Testing for Global Developmental Delay in Early Childhood.

Zhang J et al.

Jama Network Open, 2024

38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2

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

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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."