Mutation Details for c.43_44insT
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cDNA Name
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c.43_44insT
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Protein Name
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p.Ser18GlnfsX27
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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175insT
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Other Details
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Contributors
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Schwartz M,
Larsen P,
Palle AL,
Vedel
1993-11-05
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Institute
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Section of Clinical Genetics
Copenhagen, Denmar
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Submitted Phenotype Details
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Reference
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Schwartz et al. (NL#59)
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