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2 Possible Causes for Mutation in the CLIC5 Gene

  • Autosomal Recessive Deafness 103

    Gene Human Gene Mutation Database (HGMD) CLIC5 SNPedia medical, phenotypic, and genealogical associations of SNPs for CLIC5 No data available for Polymorphic Variants from[genecards.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] AAAGA intron-variant rs1000040608 -- 45,953,686( ) GTGCA(C/T)GAAAG intron-variant rs1000049165 -- 46,103,530( ) AGACC(A/T)CCTTT intron-variant Relevant External Links for CLIC5[genecards.org]

  • Juvenile Myoclonic Epilepsy

    Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.[dx.doi.org]

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