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SNP information rs3804505

RS3804505

Normal allele: GG

A mutation in EFHC1 is associated with juvenile myoclonic epilepsy.

Polymorphism rs3804505 is related to topics like this:

Epilepsy genes

If seizures are caused by a known or presumed genetic defect or issue related to epilepsy, it is...

Research and publications:

  8737649   Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations.

  15258581   Mutations in EFHC1 cause juvenile myoclonic epilepsy.

  18823326   DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

  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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Is drug abuse genetic

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