Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

about

Germline Genetic Predisposition to Hematologic Malignancy.Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

P2860

Q39180483-64D52793-BD3F-46A6-9396-F4FFA40ACB0E Q52808533-DF9CF79A-D3FE-45DA-8EBC-61F4362C3770 Q54116561-FD6EE763-4C6C-4521-B8FF-D651CF20CCAC

P2860

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Item

http://www.wikidata.org/entity/Q50587974

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

@en

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

@nl

type

Item

label

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

@en

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

@nl

prefLabel

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

@en

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

@nl

P1476

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

@en

P2093

Alessandro De Luca

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

Angelo Selicorni

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

Bruce D Gelb

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

Daniela D'Agostino

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

Federica Consoli

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

Giulia Cencelli

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

Giuseppe Zampino

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

Luca Pannone

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

Maria C Digilio

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

Marianna Silvano

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

P2860

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

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

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

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Structural basis for autoinhibition and phosphorylation-dependent activation of c-Cbl

v-cbl, an oncogene from a dual-recombinant murine retrovirus that induces early B-lineage lymphomas

The cardiofaciocutaneous syndrome

Noonan syndrome

The RASopathies

Structure of the amino-terminal domain of Cbl complexed to its binding site on ZAP-70 kinase

P304

787-796

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

P31

scholarly article

P356

10.1002/HUMU.22809

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

P433

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

P478

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

P50

P577

2015-06-01T00:00:00Z

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

P5875

276064639

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

P698

25952305

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

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

about

P2860

P2860

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698