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	921.	Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. [electronic resource] by Simon, Mariella T Ng, Bobby G Friederich, Marisa W Wang, Raymond Y Boyer, Monica Kircher, Martin Collard, Renata Buckingham, Kati J Chang, Richard Shendure, Jay Nickerson, Deborah A Bamshad, Michael J Van Hove, Johan L K Freeze, Hudson H Abdenur, Jose E Producer: 20180207 In: Mitochondrion vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	922.	[Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene]. [electronic resource] by Guo, Xiaoyan Chen, Wenxu Lin, Mingrui Shi, Tengfei Huang, Dianhua Wang, Zhihong Producer: 20170914 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	923.	A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. [electronic resource] by Akawi, Nadia A Ben-Salem, Salma Hertecant, Jozef John, Anne Pramathan, Thachillath Kizhakkedath, Praseetha Ali, Bassam R Al-Gazali, Lihadh Producer: 20171107 In: Orphanet journal of rare diseases vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	924.	Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy. [electronic resource] by Meldau, S De Lacy, R J Riordan, G T M Goddard, E A Pillay, K Fieggen, K J Marais, A D Van der Watt, G F Producer: 20190925 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	925.	Global inference of disease-causing single nucleotide variants from exome sequencing data. [electronic resource] by Wu, Mengmeng Chen, Ting Jiang, Rui Producer: 20170825 In: BMC bioinformatics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	926.	Pre-mRNA structures forming circular RNAs. [electronic resource] by Welden, Justin R Stamm, Stefan Producer: 20200220 In: Biochimica et biophysica acta. Gene regulatory mechanisms vol. 1862 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	927.	Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human. [electronic resource] by Clark, Francis Thanaraj, T A Producer: 20020709 In: Human molecular genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	928.	OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. [electronic resource] by Romio, Leila Wright, Victoria Price, Karen Winyard, Paul J D Donnai, Dian Porteous, Mary E Franco, Brunella Giorgio, Giovanna Malcolm, Sue Woolf, Adrian S Feather, Sally A Producer: 20030811 In: Journal of the American Society of Nephrology : JASN vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	929.	[A novel molecular mechanism of congenital FV deficiency: mutation in the intron acceptor splice site of human blood coagulation FV gene]. [electronic resource] by Fu, Wei-jun Hou, Jian Wang, Dong-xing Yu, Run-quan Producer: 20030807 In: Zhonghua yi xue za zhi vol. 83 Availability: No items available. Save to lists Add to cart (remove)
	930.	Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. [electronic resource] by Pasmooij, A M G van der Steege, G Pas, H H Smitt, J H Sillevis Nijenhuis, A M Zuiderveen, J Jonkman, M F Producer: 20041228 In: The British journal of dermatology vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	931.	Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene. [electronic resource] by Kabzińska, D Kochański, A Drac, H Ryniewicz, B Rowińska-Marcińska, K Hausmanowa-Petrusewicz, I Producer: 20050929 In: Neuropediatrics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	932.	Involvement of the nuclear cap-binding protein complex in alternative splicing in Arabidopsis thaliana. [electronic resource] by Raczynska, Katarzyna Dorota Simpson, Craig G Ciesiolka, Adam Szewc, Lukasz Lewandowska, Dominika McNicol, Jim Szweykowska-Kulinska, Zofia Brown, John W S Jarmolowski, Artur Producer: 20100212 In: Nucleic acids research vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	933.	Identification of a rapid mammalian deadenylation-dependent decay pathway and its inhibition by a viral RNA element. [electronic resource] by Conrad, Nicholas K Mili, Stavroula Marshall, Eleanor L Shu, Mei-Di Steitz, Joan A Producer: 20070125 In: Molecular cell vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	934.	Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome. [electronic resource] by Kim, Kyung M Kim, Gu-Hwan Park, Young S Yoo, Han-Wook Producer: 20120320 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	935.	Novel splice-site and frameshift ATP2A2 mutations in Chinese patients with Darier disease. [electronic resource] by Shi, H J Li, M Zhang, G L Xu, S X Shao, M H Gu, Y Du, X F Mu, H J Xie, P Producer: 20121105 In: Clinical and experimental dermatology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	936.	Inflammation-dependent secretion and splicing of IL-32{gamma} in rheumatoid arthritis. [electronic resource] by Heinhuis, Bas Koenders, Marije I van de Loo, Fons A Netea, Mihai G van den Berg, Wim B Joosten, Leo A B Producer: 20110526 In: Proceedings of the National Academy of Sciences of the United States of America vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	937.	Splicing of internal large exons is defined by novel cis-acting sequence elements. [electronic resource] by Bolisetty, Mohan T Beemon, Karen L Producer: 20121228 In: Nucleic acids research vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	938.	Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. [electronic resource] by Hancock, D B Reginsson, G W Gaddis, N C Chen, X Saccone, N L Lutz, S M Qaiser, B Sherva, R Steinberg, S Zink, F Stacey, S N Glasheen, C Chen, J Gu, F Frederiksen, B N Loukola, A Gudbjartsson, D F Brüske, I Landi, M T Bickeböller, H Madden, P Farrer, L Kaprio, J Kranzler, H R Gelernter, J Baker, T B Kraft, P Amos, C I Caporaso, N E Hokanson, J E Bierut, L J Thorgeirsson, T E Johnson, E O Stefansson, K Producer: 20160711 In: Translational psychiatry vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	939.	A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient. [electronic resource] by Chear, Chai Teng Ripen, Adiratna Mat Mohamed, Sharifah Adlena Syed Dhaliwal, Jasbir Singh Producer: 20150427 In: Gene vol. 560 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	940.	HIV-1 splicing is controlled by local RNA structure and binding of splicing regulatory proteins at the major 5' splice site. [electronic resource] by Mueller, Nancy Berkhout, Ben Das, Atze T Producer: 20151014 In: The Journal of general virology vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 3387 results.