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m.7445A>G, MT-TS1, Maternally inherited sensorineural deafness; later palmoplantar keratoderma association

tRNA variant m.7445A>G
Gene MT-TS1
Disease Maternally inherited sensorineural deafness; later palmoplantar keratoderma association
Description Affects processing of the tRNA precursor transcript.
tRNAs trbR00001085
Publications
  • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.
    F M Reid, G A Vernham, H T Jacobs
    Human mutation
    volume: 3 issue: 3 PUBMED ID: 8019558