Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.

about

Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.

Item

http://www.wikidata.org/entity/Q55116641

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh

2018年學術文章

@zh-hant

name

Rare copy number variants anal ...... with congenital heart defects.

@en

Rare copy number variants anal ...... with congenital heart defects.

@nl

type

Item

label

Rare copy number variants anal ...... with congenital heart defects.

@en

Rare copy number variants anal ...... with congenital heart defects.

@nl

prefLabel

Rare copy number variants anal ...... with congenital heart defects.

@en

Rare copy number variants anal ...... with congenital heart defects.

@nl

P1476

Rare copy number variants anal ...... with congenital heart defects.

@en

P2093

Chunjie Liu

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

Fen Li

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

Kun Sun

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

Rang Xu

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

Ruixue Cao

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

Sun Chen

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

Tingting Li

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

Yuejuan Xu

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

P2860

Ciliary and non-ciliary expression and function of PACRG during vertebrate development.

Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

A novel RING-type ubiquitin ligase breast cancer-associated gene 2 correlates with outcome in invasive breast cancer

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality.

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

P2888

s13073-018-0549-y

P304

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

P31

scholarly article

P356

10.1186/S13073-018-0549-Y

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

P433

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

P478

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

P577

2018-05-30T00:00:00Z

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

P6179

1104290632

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

P698

29843777

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

P932

5975672

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