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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1991 | 1 |
1998 | 1 |
2007 | 1 |
2015 | 1 |
2021 | 1 |
2024 | 0 |
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Page 1
Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
Am J Hum Genet. 1991 Jun;48(6):1105-14.
Am J Hum Genet. 1991.
PMID: 2035531
Free PMC article.
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW.
Choi JH, et al.
J Hum Genet. 2015 Sep;60(9):501-7. doi: 10.1038/jhg.2015.54.
J Hum Genet. 2015.
PMID: 25994866
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OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux JB, Magen M, Simon M, Brassier A, Jabot-Hanin F, Lonlay P, Pontoizeau C, Guirat M, Rio M, Gesny R, Gigarel N, Royer G, Steffann J, Munnich A, Bonnefont JP.
Gobin-Limballe S, et al.
J Inherit Metab Dis. 2021 Sep;44(5):1235-1247. doi: 10.1002/jimd.12404. Epub 2021 Jun 10.
J Inherit Metab Dis. 2021.
PMID: 34014569
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.
Buratti E, et al.
Nucleic Acids Res. 2007;35(13):4250-63. doi: 10.1093/nar/gkm402. Epub 2007 Jun 18.
Nucleic Acids Res. 2007.
PMID: 17576681
Free PMC article.
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Statistical features of human exons and their flanking regions.
Zhang MQ.
Zhang MQ.
Hum Mol Genet. 1998 May;7(5):919-32. doi: 10.1093/hmg/7.5.919.
Hum Mol Genet. 1998.
PMID: 9536098
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