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Q36178636-EF28FBE3-522D-4843-B850-CF5CB482AB84
Q36178636-EF28FBE3-522D-4843-B850-CF5CB482AB84
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36178636-EF28FBE3-522D-4843-B850-CF5CB482AB84
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.
P2860
Q36178636-EF28FBE3-522D-4843-B850-CF5CB482AB84
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36178636-EF28FBE3-522D-4843-B850-CF5CB482AB84
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Statement
wasDerivedFrom
845d522b3c16e3dd4399e522316c9c5ee6fa657c
P2860
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.