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SNP information rs60986317

RS60986317

Normal allele: GG

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

Polymorphism rs60986317 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.

  14962673   Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.

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

  21454443   Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.

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

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