Mutation Details for c.2658-1G>C
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cDNA Name
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c.2658-1G>C
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Exon or Intron
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intron 16
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Legacy Exon or Intron
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intron 14b
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2790-1G->C
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Other Details
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This mutation was found in two unrelated patients of Danish origin
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Contributors
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Schwartz M,
Palle AL,
Vedel G,
Larsen
1993-03-01
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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#54)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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