Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

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http://www.wikidata.org/entity/Q28242188
Expansion of the RASopathiesGenotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.mTORC2 is required for rit-mediated oxidative stress resistance.Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotypeNoonan syndrome - a new survey.Recent advances in RASopathies.Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.Prolapse of all cardiac valves in Noonan syndrome.Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.Response to: Milosavljevic et al. "Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature".RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
P2860

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

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http://www.wikidata.org/entity/Q28242188
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2014 nî lūn-bûn
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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
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name
Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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type
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Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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Contribution of RIT1 mutations ...... ther evidence of heterogeneity
@en
Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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Contribution of RIT1 mutations ...... ther evidence of heterogeneity
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P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921