Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

about

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

Item

http://www.wikidata.org/entity/Q53081170

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

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-hant

name

Variable phenotypic expression ...... egating a novel SOS1 mutation.

@en

Variable phenotypic expression ...... egating a novel SOS1 mutation.

@nl

type

Item

label

Variable phenotypic expression ...... egating a novel SOS1 mutation.

@en

Variable phenotypic expression ...... egating a novel SOS1 mutation.

@nl

prefLabel

Variable phenotypic expression ...... egating a novel SOS1 mutation.

@en

Variable phenotypic expression ...... egating a novel SOS1 mutation.

@nl

P1476

Variable phenotypic expression ...... regating a novel SOS1 mutation

@en

P2093

Ineke van der Burgt

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

Jos M Draaisma

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

Tuula Rinne

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

P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Analysis of protein-coding genetic variation in 60,706 humans

Noonan syndrome

A restricted spectrum of NRAS mutations causes Noonan syndrome

Approach for targeting Ras with small molecules that activate SOS-mediated nucleotide exchange

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

P304

2968-2972

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

P31

scholarly article

P356

10.1002/AJMG.A.38466

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

P407

English

P433

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

P478

173

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

P50

Cees Noordam

Dorothée C van Trier

P577

2017-09-08T00:00:00Z

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

P698

28884940

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