Mutation Details for c.708dupT
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.708dupT
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Protein Name
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p.Gln237SerfsX21
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Mgr. Malgorzata Libi, PhD-Faculty Hospital Motol, Prague, Czech Republic, Dr. Lali Margvelasvili,Dr. Oleg Kvlividzde – Medical University Tbillisi, Georgia, Prof. Milan Macek -Faculty Hospital Motol, Prague, Czech Republic | - | |
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Submitted Phenotype Details
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Patient from Georgia, CF suspected, with c.3185T>C on the second allele
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Reference
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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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