Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.G12A
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CS

NM_004077.3:p.G12A

Associated Papers

Clinical Interpretation Challenges of Germline-Shared Somatic Variants in Cancer.

Park KJ

Laboratory Medicine, 2022

HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.

Beukers W et al.

European Journal of Human Genetics : Ejhg, 2014

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T et al.

Journal of Human Genetics, 2011

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Bertola DR et al.

Journal of Human Genetics, 2007

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL et al.

American Journal of Medical Genetics. Part A, 2006

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