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Q36087551-4168F92D-DC13-440E-BB82-5D8FBFBE4AF5
Q36087551-4168F92D-DC13-440E-BB82-5D8FBFBE4AF5
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http://www.wikidata.org/entity/statement/Q36087551-4168F92D-DC13-440E-BB82-5D8FBFBE4AF5
Mutation deep within an intron of MSH2 causes Lynch syndrome.
P2860
Q36087551-4168F92D-DC13-440E-BB82-5D8FBFBE4AF5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36087551-4168F92D-DC13-440E-BB82-5D8FBFBE4AF5
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wasDerivedFrom
445b2c5df68280dd6d2e1b0444379994c865eb13
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.