Casarubinstein síndrome

Identification of de novo EP300 and PLAU variants in a patient

Por um escritor misterioso
Last updated 10 novembro 2024
Identification of de novo EP300 and PLAU variants in a patient
Identification of de novo EP300 and PLAU variants in a patient
The analysis for the characterization of three mosaic variants. (A) NGS
Identification of de novo EP300 and PLAU variants in a patient
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Identification of de novo EP300 and PLAU variants in a patient
Schematic representation of p300 protein and EP300 gene, including
Identification of de novo EP300 and PLAU variants in a patient
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
Identification of de novo EP300 and PLAU variants in a patient
Distribution of pathogenic ANKRD17 variants and 4q13.3 deletions (A)
Identification of de novo EP300 and PLAU variants in a patient
Base-pair level characterization of clinically-identified de novo
Identification of de novo EP300 and PLAU variants in a patient
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
Identification of de novo EP300 and PLAU variants in a patient
CIMB, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants - ScienceDirect
Identification of de novo EP300 and PLAU variants in a patient
Cancers, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
PDF) Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms
Identification of de novo EP300 and PLAU variants in a patient
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
Identification of de novo EP300 and PLAU variants in a patient
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
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