Varaico: Literature-Extracted Genetic Variants

Gene:PLAG1
Variant:p.R201fs
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PLAG1

NM_002655.3:p.R201fs

Associated Papers

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

D'Angelo E et al.

Clinical Epigenetics, 2025

Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review.

Wu K et al.

Frontiers in Genetics, 2024

Clinical characterization of PLAG1- related Silver-Russell syndrome:A clinical report.

Dong P et al.

European Journal of Medical Genetics, 2023

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