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Q39253889-8B3DACEC-AFE6-41F8-B12D-2DCD36F83102
Q39253889-8B3DACEC-AFE6-41F8-B12D-2DCD36F83102
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http://www.wikidata.org/entity/statement/Q39253889-8B3DACEC-AFE6-41F8-B12D-2DCD36F83102
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.
P2860
Q39253889-8B3DACEC-AFE6-41F8-B12D-2DCD36F83102
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39253889-8B3DACEC-AFE6-41F8-B12D-2DCD36F83102
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wasDerivedFrom
acdad90bc5d942f1d143cdb16ca885ac8a7b35e9
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.