Varaico: Literature-Extracted Genetic Variants

Gene:PLAG1
Variant:p.R224Q
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PLAG1

NM_002655.3:p.R224Q

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

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene.

Vimercati A et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__All_somatic_mutation
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