PDF) Identification of de novo EP300 and PLAU variants in a
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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect
(PDF) Identification of cis-regulatory mutations generating de novo edges in personalized cancer gene regulatory networks
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex - ScienceDirect
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
PDF) 562. Detection and characterisation of de novo structural variants in pigs
Epigenetic regulation in the tumor microenvironment: molecular mechanisms and therapeutic targets
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Cancers, Free Full-Text
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome - ScienceDirect
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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