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Article

Genotype-Phenotype Correlations in SYNGAP1-Related Mental Retardation Type 5.

Clinical genetics - 1 Feb 2025

Hong Liying, Yuan Qifeng

Abstract excerpt

Variants in the SYNGAP1 gene leading to decreased SynGAP protein expression are critical for the pathogenesis of mental retardation type 5 (MRD5). This study aims to explore the relationship between SYNGAP1 genotype and clinical phenotype through an expanded sample size, thereby enhancing the understanding of the specific mechanisms underlying MRD5. Data from previously published cases of patients with SYNGAP1...

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Identifiers

PMID: 39647930
DOI: 10.1111/cge.14661

Genes

SYNGAP1

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