Varaico: Literature-Extracted Genetic Variants

Gene:PLAG1
Variant:p.S147delFs
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PLAG1

NM_002655.3:p.S147delFs

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

Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.

Brereton RE et al.

American Journal of Medical Genetics. Part A, 2021

Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.

Vado Y et al.

Genes, 2020

33291420 (PubMed )
Supplement: genes-11-01461-s001.zip › genes-1005660 › SUPPLEMENTAL_PLAG1_v2.xlsx › Supplementary_table_s1

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.

Tümer Z et al.

Human Mutation, 2018

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Abi Habib W et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."