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	521.	Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. [electronic resource] by Williams, Emma Rumsby, Gill Producer: 20070918 In: Clinical chemistry vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	522.	Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa. [electronic resource] by Drera, B Floriddia, G Forzano, F Barlati, S Zambruno, G Colombi, M Castiglia, D Producer: 20091224 In: The British journal of dermatology vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	523.	A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. [electronic resource] by Zeng, Binghui Li, Ru Hu, Yuelin Hu, Bin Zhao, Qiang Liu, Huijiao Yuan, Ping Wang, Yiming Producer: 20160318 In: Gene vol. 576 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	524.	LEMONS - A Tool for the Identification of Splice Junctions in Transcriptomes of Organisms Lacking Reference Genomes. [electronic resource] by Levin, Liron Bar-Yaacov, Dan Bouskila, Amos Chorev, Michal Carmel, Liran Mishmar, Dan Producer: 20160627 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	525.	The incredible complexity of RNA splicing. [electronic resource] by Robert, Christelle Watson, Mick Producer: 20170710 In: Genome biology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	526.	The cancer-associated U2AF35 470A>G (Q157R) mutation creates an in-frame alternative 5' splice site that impacts splicing regulation in Q157R patients. [electronic resource] by Herdt, Olga Neumann, Alexander Timmermann, Bernd Heyd, Florian Producer: 20171206 In: RNA (New York, N.Y.) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	527.	Functions for fission yeast splicing factors SpSlu7 and SpPrp18 in alternative splice-site choice and stress-specific regulated splicing. [electronic resource] by Melangath, Geetha Sen, Titash Kumar, Rakesh Bawa, Pushpinder Srinivasan, Subha Vijayraghavan, Usha Producer: 20180104 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	528.	From polyadenylation to splicing: Dual role for mRNA 3' end formation factors. [electronic resource] by Misra, Ashish Green, Michael R Producer: 20161213 In: RNA biology vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	529.	RNA Trans-Splicing Modulation via Antisense Molecule Interference. [electronic resource] by Liemberger, Bernadette Piñón Hofbauer, Josefina Wally, Verena Arzt, Claudia Hainzl, Stefan Kocher, Thomas Murauer, Eva M Bauer, Johann W Reichelt, Julia Koller, Ulrich Producer: 20180827 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	530.	Using secondary structure to predict the effects of genetic variants on alternative splicing. [electronic resource] by Wang, Robert Wang, Yaqiong Hu, Zhiqiang Producer: 20200313 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	531.	Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report. [electronic resource] by Maghami, Fatemeh Tabei, Seyed Mohammad Bagher Moravej, Hossein Dastsooz, Hassan Modarresi, Farzaneh Silawi, Mohammad Faghihi, Mohammad Ali Producer: 20190225 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	532.	Human Splice-Site Prediction with Deep Neural Networks. [electronic resource] by Naito, Tatsuhiko Producer: 20191023 In: Journal of computational biology : a journal of computational molecular cell biology vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	533.	A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency. [electronic resource] by Smeets, Roel J P Smeitink, Jan A M Semmekrot, Ben A Scholte, Hans R Wanders, Ronald J A van den Heuvel, Lambert P W J Producer: 20030718 In: Journal of human genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	534.	Biased chromatin signatures around polyadenylation sites and exons. [electronic resource] by Spies, Noah Nielsen, Cydney B Padgett, Richard A Burge, Christopher B Producer: 20091124 In: Molecular cell vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	535.	U12DB: a database of orthologous U12-type spliceosomal introns. [electronic resource] by Alioto, Tyler S Producer: 20070316 In: Nucleic acids research vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	536.	FX: an RNA-Seq analysis tool on the cloud. [electronic resource] by Hong, Dongwan Rhie, Arang Park, Sung-Soo Lee, Jongkeun Ju, Young Seok Kim, Sujung Yu, Saet-Byeol Bleazard, Thomas Park, Hyun-Seok Rhee, Hwanseok Chong, Hyonyong Yang, Kap-Seok Lee, Yeon-Su Kim, In-Hoo Lee, Jin Soo Kim, Jong-Il Seo, Jeong-Sun Producer: 20120810 In: Bioinformatics (Oxford, England) vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	537.	[A novel mutation in β-globin gene of a patient with β-thalassemia]. [electronic resource] by Peng, Yun-Sheng Sun, Shun-Chang Chen, Qun-Rong Wang, Qing Mo, Bao-Mei Producer: 20121220 In: Zhongguo shi yan xue ye xue za zhi vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	538.	Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions. [electronic resource] by Ellis, James R Heinrich, Bianca Mautner, Victor-F Kluwe, Lan Producer: 20111107 In: Genes, chromosomes & cancer vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	539.	Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. [electronic resource] by Labonne, Jonathan D J Chung, Min Ji Jones, Julie R Anand, Priya Wenzel, Wolfgang Iacoboni, Daniela Layman, Lawrence C Kim, Hyung-Goo Producer: 20160225 In: Gene vol. 575 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	540.	Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease. [electronic resource] by Claverie-Martin, Felix Gonzalez-Paredes, Francisco J Ramos-Trujillo, Elena Producer: 20160104 In: RNA biology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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