PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

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Aetiology and management of hereditary aortopathy.Adverse Intrauterine Environment and Cardiac miRNA Expression.Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease

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P2860

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

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http://www.wikidata.org/entity/Q47864615

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

@en

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

@nl

type

Item

label

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

@en

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

@nl

prefLabel

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

@en

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

@nl

P1476

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease

@en

P2093

Alejandro Blanco-Verea

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

Artur Evangelista

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

Francesca Huguet

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

Ivo Gut

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

Marina Gago-Díaz

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

Marta Gut

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

Ángel Carracedo

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P2860

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections

A method and server for predicting damaging missense mutations

The Sequence Alignment/Map format and SAMtools

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

MutationTaster evaluates disease-causing potential of sequence alterations

Detection of nonneutral substitution rates on mammalian phylogenies

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

The genetic basis for aortic aneurysmal disease.

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.

P304

787-794

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scholarly article

P356

10.1111/ECI.12662

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P433

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

P478

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

P50

Gisela Teixido-Tura

Maria Brion

Steven Laurie

P577

2016-08-18T00:00:00Z

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P698

27442293

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PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

about

P2860

P2860

PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698