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Splice site mutation
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#	Item
1	Coding exon-structure aware realigner (CESAR) utilizes genome alignments for accurate comparative gene annotation Add to Reading List Source URL: publications.mpi-cbg.de Language: English Gene expression Spliceosome Bioinformatics RNA splicing DNA Exon Splice site mutation Pseudogene Gene prediction Frameshift mutation Human genome Intron
2	Distribution of Base Composition around the Splice Sites in Dierent Species Masahiko Mizuno Minoru Kanehisa Add to Reading List Source URL: www.jsbi.org Language: English - Date: 1998-01-09 02:49:54 Genetics Biology Spliceosome Gene expression RNA splicing DNA Intron Exon Polypyrimidine tract Splice site mutation
3	Haemophilia (2006), 12, 258–262 DOI: j01216.x Predicting severity of haemophilia A and B splicing mutations by information analysis Add to Reading List Source URL: cytognomix.org Language: English - Date: 2008-03-06 04:10:20 RNA splicing Spliceosome Molecular genetics Splice site mutation Mutation Haemophilia Morpholino Messenger RNA FI Biology Genetics Gene expression
4	Title: PROP1-Related Combined Pituitary Hormone Deficiency GeneReview – POU1F1 Variants Author: de Graaff L Date: August 2014 Note: The following information is provided by the authors listed above and has not been rev Add to Reading List Source URL: www.ncbi.nlm.nih.gov Language: English Pituitary-specific positive transcription factor 1 Growth hormone Pituitary gland PROP1 Splice site mutation Biology Anatomy Transcription factors
5	References 1. Abstracts of the the american society for neurochemistry 37th annual meeting, portland, oregon, USA, 11-15 march[removed]J Neurochem 2006 Mar;96 Suppl 1:[removed]Annals of Neurology(5):- [removed]Aggarwal S, Add to Reading List Source URL: schneider.ncifcrf.gov Language: English - Date: 2012-07-20 17:22:43 RNA splicing Spliceosome Retinal Degeneration Evolutionary biology Splice site mutation Alternative splicing Mutation V-ATPase Peter K. Gregersen Biology Genetics Gene expression
6	Case report Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene Add to Reading List Source URL: www.ncbi.nlm.nih.gov Language: English RNA splicing Spliceosome DNA Blood proteins Human serum albumin Exon Mutation Complementary DNA Splice site mutation Biology Genetics Gene expression

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