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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2021 | 1 |
2023 | 2 |
2024 | 0 |
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Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.
Int J Mol Sci. 2023 Jan 13;24(2):1562. doi: 10.3390/ijms24021562.
Int J Mol Sci. 2023.
PMID: 36675087
Free PMC article.
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
Núñez-Moreno G, Tamayo A, Ruiz-Sánchez C, Cortón M, Mínguez P.
Núñez-Moreno G, et al.
Hum Genet. 2023 Apr;142(4):495-506. doi: 10.1007/s00439-023-02539-z. Epub 2023 Mar 7.
Hum Genet. 2023.
PMID: 36881176
Free PMC article.
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Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Damián A, Ionescu RO, Rodríguez de Alba M, Tamayo A, Trujillo-Tiebas MJ, Cotarelo-Pérez MC, Pérez Rodríguez O, Villaverde C, de la Fuente L, Romero R, Núñez-Moreno G, Mínguez P, Ayuso C, Cortón M.
Damián A, et al.
Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713.
Int J Mol Sci. 2021.
PMID: 34884523
Free PMC article.
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