Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2045-2322
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex ; volume:9 ; number:1 ; day:14 ; month:3 ; year:2019 ; pages:1-7 ; date:12.2019
Scientific reports ; 9, Heft 1 (14.3.2019), 1-7, 12.2019
- Creator
-
Ye, Yicong
Zeng, Yong
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1038/s41598-019-38898-9
- URN
-
urn:nbn:de:101:1-2019040222310251319235
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:59 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Ye, Yicong
- Zeng, Yong
- SpringerLink (Online service)
Other Objects (12)
Sequence features responsible for intron retention in human
Identification of heterozygous mutations of ABCC8 gene responsible for maturity-onset diabetes of the young with exome sequencing
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
VEB Intron Leipzig
VEB Intron Leipzig
VEB Intron Leipzig
Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets
Sequence features responsible for intron retention in human
Identification of heterozygous mutations of ABCC8 gene responsible for maturity-onset diabetes of the young with exome sequencing
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
VEB Intron Leipzig
VEB Intron Leipzig
VEB Intron Leipzig
Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets
Sequence features responsible for intron retention in human
Identification of heterozygous mutations of ABCC8 gene responsible for maturity-onset diabetes of the young with exome sequencing
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
VEB Intron Leipzig
VEB Intron Leipzig
VEB Intron Leipzig
Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder