A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
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Brain region-specific expression of MeCP2 isoforms correlates with DNA methylation within Mecp2 regulatory elements.The functional relevance of somatic synonymous mutations in melanoma and other cancers.From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.Rett syndrome and MeCP2.Transcriptional Regulation of Brain-Derived Neurotrophic Factor (BDNF) by Methyl CpG Binding Protein 2 (MeCP2): a Novel Mechanism for Re-Myelination and/or Myelin Repair Involved in the Treatment of Multiple Sclerosis (MS).Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.Settling the score: variant prioritization and Mendelian disease.
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P2860
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 19 July 2013
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vetenskaplig artikel
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videnskabelig artikel
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A synonymous change, p.Gly16Gl ...... nt in a Rett syndrome patient.
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A synonymous change, p.Gly16Gl ...... nt in a Rett syndrome patient.
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type
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A synonymous change, p.Gly16Gl ...... nt in a Rett syndrome patient.
@en
A synonymous change, p.Gly16Gl ...... nt in a Rett syndrome patient.
@nl
prefLabel
A synonymous change, p.Gly16Gl ...... nt in a Rett syndrome patient.
@en
A synonymous change, p.Gly16Gl ...... nt in a Rett syndrome patient.
@nl
P2093
P2860
P356
P1476
A synonymous change, p.Gly16Gl ...... nt in a Rett syndrome patient.
@en
P2093
John B Vincent
Kirti Mittal
Mary J Willis
Taimoor I Sheikh
P2860
P2888
P356
10.1186/1750-1172-8-108
P577
2013-07-19T00:00:00Z
P5875
P6179
1020907487