PDF) Identification of de novo EP300 and PLAU variants in a
Por um escritor misterioso
Last updated 17 outubro 2024
PDF) Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors
Histone acetyltransferases CBP/p300 in tumorigenesis and CBP/p300 inhibitors as promising novel anticancer agents
PDF) 562. Detection and characterisation of de novo structural variants in pigs
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research - Foreman - 2022 - Human Mutation - Wiley Online Library
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
P300 Interacted With N-Myc and Regulated Its Protein Stability via Altering Its Post-Translational Modifications in Neuroblastoma - ScienceDirect
Frontiers Rare diseases of epigenetic origin: Challenges and opportunities
(PDF) Identification of cis-regulatory mutations generating de novo edges in personalized cancer gene regulatory networks
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