MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Item
http://www.wikidata.org/entity/Q34234134
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsAre all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case reportNovel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing resultsThe genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Increasing Role of Titin Mutations in Neuromuscular Disorders.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.GYG1 gene mutations in a family with polyglucosan body myopathy.Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
P2860

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Item
http://www.wikidata.org/entity/Q34234134
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@ast
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@en
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@nl
type
label
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@ast
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@en
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@nl
prefLabel
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@ast
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@en
MotorPlex provides accurate va ...... s and in pools of DNA samples.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
MotorPlex provides accurate va ...... ts and in pools of DNA samples
@en
P2093
P2860
P2888
P304
P31
P356
10.1186/PREACCEPT-1020679654138560
P478
P50
P577
P5875
P698
P932