present in Gene: RIT1
present in Chromosome: 1
Position on Chromosome: 155904470
Alleles of this Variant: C/A;G;T
rs483352822 in
RIT1 gene and
NOONAN SYNDROME 8
PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.
PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.
rs483352822 in
RIT1 gene and
Noonan Syndrome
PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.
PMID 24469055 2014 Oncogenic RIT1 mutations in lung adenocarcinoma.
PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.