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Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer.

08:00 EDT 2nd April 2019 | BioPortfolio

Summary of "Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer."

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This article was published in the following journal.

Name: Acta dermato-venereologica
ISSN: 1651-2057
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PubMed Articles [16343 Associated PubMed Articles listed on BioPortfolio]

Identification of a variant-associated with early-onset diabetes in the intron of INS gene with exome sequencing.

Whole-exome sequencing is a new technology. We used it to explore the gene responsible for early-onset diabetes due to impaired insulin secretion in a family. In the INS gene, we identified the hetero...

A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.

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Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.

Human MSTO1 is involved in the regulation of mitochondrial distribution and morphology and its unregulated expression leads to mitochondrial disorder. Despite its significance for mitochondrial functi...

Whole exome sequencing revealed mutational profiles of giant cell glioblastomas.

Giant cell glioblastoma (gcGBM) is a rare histological variant of GBM, accounting for about 1% of all GBM. The prognosis is poor generally though gcGBM does slightly better than the other IDH wild-typ...

Clinical Trials [4425 Associated Clinical Trials listed on BioPortfolio]

Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

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Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candida...

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Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs

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Medical and Biotech [MESH] Definitions

Techniques to determine the complete complement of sequences of all EXONS of an organism or individual.

Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).

A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression.

The use of techniques that produce a functional MUTATION or an effect on GENE EXPRESSION of a specific gene of interest in order to identify the role or activity of the gene product of that gene.

A mutation that causes a decrease in or elimination of a gene product's activity.

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