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Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
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Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. Am J Med Genet A. 2011 Sep; 155A(9):2263-8.
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PubMed
subject areas
Abnormalities, Multiple
Adult
Alleles
Amino Acid Substitution
Costello Syndrome
DNA Mutational Analysis
Facies
Female
Germ-Line Mutation
Humans
Male
Mosaicism
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Protein Conformation
Proto-Oncogene Proteins p21(ras)
Siblings