Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

about

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.

P2860

Q52586106-E385D4CE-B5D5-4027-ABD7-9EACD7446928

P2860

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

Item

http://www.wikidata.org/entity/Q46728670

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

Allelic Expression Imbalance i ...... on Inherited Retinal Diseases.

@en

Allelic Expression Imbalance i ...... on Inherited Retinal Diseases.

@nl

type

Item

label

Allelic Expression Imbalance i ...... on Inherited Retinal Diseases.

@en

Allelic Expression Imbalance i ...... on Inherited Retinal Diseases.

@nl

prefLabel

Allelic Expression Imbalance i ...... on Inherited Retinal Diseases.

@en

Allelic Expression Imbalance i ...... on Inherited Retinal Diseases.

@nl

P1476

Allelic Expression Imbalance i ...... on Inherited Retinal Diseases.

@en

P2093

Bernd Wissinger

http://www.w3.org/2001/XMLSchema#string

Efdal Yoeruek

http://www.w3.org/2001/XMLSchema#string

Jan Vetter

http://www.w3.org/2001/XMLSchema#string

Margherita Mutarelli

http://www.w3.org/2001/XMLSchema#string

Pablo Llavona

http://www.w3.org/2001/XMLSchema#string

Sebastian Thaler

http://www.w3.org/2001/XMLSchema#string

Simone Schimpf-Linzenbold

http://www.w3.org/2001/XMLSchema#string

P2860

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

Retinal dystrophies, genomic applications in diagnosis and prospects for therapy

Tyro3 Modulates Mertk-Associated Retinal Degeneration

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Whole transcriptome RNA-Seq allelic expression in human brain

Systematic evaluation of spliced alignment programs for RNA-seq data

Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction

Abundant contribution of short tandem repeats to gene expression variation in humans.

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.

P31

scholarly article

P356

10.3390/GENES8100283

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Susanne Kohl

Michele Pinelli

Veer Singh Marwah

P577

2017-10-20T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29053642

http://www.w3.org/2001/XMLSchema#string

P921

transcriptome

P932

5664133

http://www.w3.org/2001/XMLSchema#string

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

about

P2860

P2860

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P31

P356

P433

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P31

P356

P433

P478

P50

P577

P698

P921

P932