Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2054-345X
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome ; volume:9 ; number:1 ; day:6 ; month:6 ; year:2022 ; pages:1-3 ; date:12.2022
Human genome variation ; 9, Heft 1 (6.6.2022), 1-3, 12.2022
- Urheber
-
Duong, Nguyen Thuy
Anh, Nguyen Phuong
Bac, Nguyen Duy
Quang, Le Bach
Miyake, Noriko
Hai, Nong Van
Matsumoto, Naomichi
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41439-022-00200-1
- URN
-
urn:nbn:de:101:1-2022080323222656198108
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:30 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Duong, Nguyen Thuy
- Anh, Nguyen Phuong
- Bac, Nguyen Duy
- Quang, Le Bach
- Miyake, Noriko
- Hai, Nong Van
- Matsumoto, Naomichi
- SpringerLink (Online service)
Ähnliche Objekte (12)
Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population
Whole-exome sequencing identifies a novel germline variant in PTK7 gene in familial colorectal cancer
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family
Whole-exome sequencing of a pedigree segregating asthma
Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome
A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing
Comprehensive comparison of three commercial human whole-exome capture platforms
Human whole-exome genotype data for Alzheimer’s disease
Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population
Whole-exome sequencing identifies a novel germline variant in PTK7 gene in familial colorectal cancer
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family
Whole-exome sequencing of a pedigree segregating asthma
Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome
A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing
Comprehensive comparison of three commercial human whole-exome capture platforms
Human whole-exome genotype data for Alzheimer’s disease
Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population
Whole-exome sequencing identifies a novel germline variant in PTK7 gene in familial colorectal cancer
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family
Whole-exome sequencing of a pedigree segregating asthma
Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome
A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing
Comprehensive comparison of three commercial human whole-exome capture platforms