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SNP information rs1061472

RS1061472

Normal allele: CC

Polymorphisms associated with Wilson's disease. Wilson's disease is an inherited disorder in which excess copper is stored in the body.

Polymorphism rs1061472 is related to topics like this:

Wilson disease gene

Wilson's disease is an autosomal recessive condition, necessitating that both parents carry at...

Research and publications:

  11405812   Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

  18414213   ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

  22356903   Association of SNP K832R and R952K of the Wilson's disease gene with Alzheimer's disease.

  22950421   Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

  24852429   The ATP7B genetic polymorphisms predict clinical outcome to platinum-based chemotherapy in lung cancer patients.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26758278   Non-ceruloplasmin copper distinguishes Alzheimer's disease subtypes: a genetic study of ATP7B frequency.

  27398169   Mutational analysis of ATP7B in Chinese Wilson disease patients.

  27499173   A technical application of quantitative next generation sequencing for chimerism evaluation.

  28008856   Interaction between airborne copper exposure and ATP7B polymorphisms on inattentiveness in scholar children.

  29540233   Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.

  29970670   ATP7B rs9535826 is associated with gastrointestinal toxicity of platinum-based chemotherapy in nonsmall cell lung cancer patients.

  34209820   Copper imbalance in Alzheimer's disease: a meta-analysis of serum, plasma and brain samples and a replication study assessing variants in the ATP7B gene.

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