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Q35881615-F2D0F23E-61A6-452B-9A71-9C2954A2CCBC
Q35881615-F2D0F23E-61A6-452B-9A71-9C2954A2CCBC
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Statement
http://www.wikidata.org/entity/statement/Q35881615-F2D0F23E-61A6-452B-9A71-9C2954A2CCBC
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma
P2860
Q35881615-F2D0F23E-61A6-452B-9A71-9C2954A2CCBC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35881615-F2D0F23E-61A6-452B-9A71-9C2954A2CCBC
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wasDerivedFrom
621bc945b3ad466a33e6f8cd55184e822a849f1e
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.