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Identification of de novo EP300 and PLAU variants in a patient

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Identification of de novo EP300 and PLAU variants in a patient
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Identification of de novo EP300 and PLAU variants in a patient
Biomolecules, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
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Identification of de novo EP300 and PLAU variants in a patient
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Identification of de novo EP300 and PLAU variants in a patient
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Identification of de novo EP300 and PLAU variants in a patient
Genes, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
Overview of sequence variants in CDH patients. (A) Number of validated
Identification of de novo EP300 and PLAU variants in a patient
Identification of USP9X as a leukemia susceptibility gene - ScienceDirect
Identification of de novo EP300 and PLAU variants in a patient
The variants in SMC1A and SYCP2 identified in the patients with WDSTS
Identification of de novo EP300 and PLAU variants in a patient
Mutation pattern of TBL1XR1 in NDDs. a Location distribution of TBL1XR1
Identification of de novo EP300 and PLAU variants in a patient
Identifying collagen VI as a target of fibrotic diseases regulated by CREBBP/EP300
Identification of de novo EP300 and PLAU variants in a patient
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Identification of de novo EP300 and PLAU variants in a patient
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Identification of de novo EP300 and PLAU variants in a patient
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients - Coursimault - 2022 - Human Mutation - Wiley Online Library
Identification of de novo EP300 and PLAU variants in a patient
Figure 2 from De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
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