Rapid Exome Sequencing and Adjunct Rna Studies Confirm Pathogenicity of a Novel Homozygous Asns Splicing Variant in a Critically Ill Neonate

Pathology - United States
doi 10.1016/j.pathol.2020.01.363
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2020English

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome

Frontiers in Genetics
GeneticsMolecular Medicine
2018English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

Genome Biology
2011English

Indications and Outcomes of Rapid Turn Around Time Whole Exome Sequencing Studies

Pathology
Forensic MedicinePathology
2020English

Integrated Exome and RNA Sequencing of Dedifferentiated Liposarcoma

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2019English

Variant Detection Sensitivity and Biases in Whole Genome and Exome Sequencing

BMC Bioinformatics
BiochemistryApplied MathematicsComputer Science ApplicationsStructural BiologyMolecular Biology
2014English

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay

Frontiers in Oncology
Cancer ResearchOncology
2018English

Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation

Neurobiology of Aging
AgingGerontologyDevelopmental BiologyGeriatricsNeuroscienceNeurology
2016English

Whole-Exome Sequencing Reveals Novel USP9X Variant in Female Fetus With Isolated Agenesis of the Corpus Callosum

Clinical Case Reports
Medicine
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy