Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon.
- DOI
- 10.3390/ijms27177555
- Published
- 2026 Aug 24
- Container
- International journal of molecular sciences
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.3390/ijms27177555,
title = {Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon.},
author = {Rozhkova AV and Esibov AA and Borkovskaia AN and Rutkovskaya EA and Groznova OS and Sagaydak OV and Doroshchuk NA and Krupinova JA and Mityaeva ON and Woroncow M and Bogdanov VP and Volchkov PY},
year = {2026},
journal = {International journal of molecular sciences},
doi = {10.3390/ijms27177555},
url = {https://doi.org/10.3390/ijms27177555}
}RIS
TY - JOUR TI - Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon. AU - Rozhkova AV AU - Esibov AA AU - Borkovskaia AN AU - Rutkovskaya EA AU - Groznova OS AU - Sagaydak OV AU - Doroshchuk NA AU - Krupinova JA AU - Mityaeva ON AU - Woroncow M AU - Bogdanov VP AU - Volchkov PY PY - 2026 JO - International journal of molecular sciences DO - 10.3390/ijms27177555 UR - https://doi.org/10.3390/ijms27177555 ER -
APA
AV, R., AA, E., AN, B., EA, R., OS, G., OV, S., NA, D., JA, K., ON, M., M, W., VP, B., & PY, V. (2026). Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon.. International journal of molecular sciences. https://doi.org/10.3390/ijms27177555
Source records
- pubmed · retrieved 2026-09-25T21:36:34.917Z