Identification of de novo EP300 and PLAU variants in a patient
Por um escritor misterioso
Descrição
Overview of sequence variants in CDH patients. (A) Number of validated
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Biomolecules, Free Full-Text
Effect of urokinase-type plasminogen activator (uPA) on the contraction
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Novel missense COL2A1 variant in a fetus with achondrogenesis type II
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Genes, Free Full-Text
Del Dup And Array - PreventionGenetics
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Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
P300 Interacted With N-Myc and Regulated Its Protein Stability via Altering Its Post-Translational Modifications in Neuroblastoma - ScienceDirect
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap cornelia de lange syndrome - Woods - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
Schematic representation (not in scale) of the CBP (A) and p300 (B)
Cancers, Free Full-Text
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