PDF) Identification of de novo EP300 and PLAU variants in a
Por um escritor misterioso
Last updated 21 outubro 2024
The impact of rare germline variants on human somatic mutation processes
Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
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
Cancers, Free Full-Text
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
De novo mutations disturb early brain development more frequently than common variants in schizophrenia - Itai - 2023 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
PDF) Variant biomarker discovery using mass spectrometry-based proteogenomics
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
PDF) De novo damaging variants associated with congenital heart diseases contribute to the connectome
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
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