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Q34169373-47CA7F88-6DF2-40AC-885B-5887C66F340B
Q34169373-47CA7F88-6DF2-40AC-885B-5887C66F340B
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http://www.wikidata.org/entity/statement/Q34169373-47CA7F88-6DF2-40AC-885B-5887C66F340B
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.
P2860
Q34169373-47CA7F88-6DF2-40AC-885B-5887C66F340B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34169373-47CA7F88-6DF2-40AC-885B-5887C66F340B
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wasDerivedFrom
20f36f0735d5869c914c5aa6ed0bfbfbb14019f2
P2860
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.