Mutation Details for c.-4G>C
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cDNA Name
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c.-4G>C
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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129G/C
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Other Details
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C in strong association with R117H.
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Contributors
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Markiewicz D,
Bozon D,
Zielenski J,
Tsui LC
1992-02-18
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Institute
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The Hospital for Sick Children
Toront, ON, Canada
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Submitted Phenotype Details
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Reference
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Zielenski et al. 1991b;Markiewicz et al. (NL#42)
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