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SNP information rs7334118

RS7334118

Normal allele: TT

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

Polymorphism rs7334118 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:

  10544227   Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

  17823867   Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

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

  18483695   Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

  21610751   Clinical presentation and mutations in Danish patients with Wilson disease.

  21682854   Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

  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.

  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.

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