Genotype and phenotype spectrum of NRAS germline variants.

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Genotype and phenotype spectrum of NRAS germline variants.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

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2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

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2017年论文

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2017年论文

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2017年论文

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Genotype and phenotype spectrum of NRAS germline variants.

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Item

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Genotype and phenotype spectrum of NRAS germline variants.

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Genotype and phenotype spectrum of NRAS germline variants.

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P1476

Genotype and phenotype spectrum of NRAS germline variants.

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P2093

Debora Bertola

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Diego Plaza

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Elisabetta Flex

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Francesca Pantaleoni

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Franziska Altmüller

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Gareth Baynam

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Helger G Yntema

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Ina Schanze

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Jane Gillis

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Kym Mina

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P2860

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

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

The cardiofaciocutaneous syndrome

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature

Noonan syndrome

The RASopathies

Guanosine triphosphatase stimulation of oncogenic Ras mutants

A restricted spectrum of NRAS mutations causes Noonan syndrome

RAS diseases in children

P2888

ejhg.2017.65

P304

823-831

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P31

scholarly article

P356

10.1038/EJHG.2017.65

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P433

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P478

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P577

2017-05-03T00:00:00Z

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1085121277

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28594414

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5520077

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