Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.
- DOI
- 10.1111/cge.70244
- Published
- 2026 Sep 7
- Container
- Clinical genetics
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1111/cge.70244,
title = {Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.},
author = {Jacob M and Badmann S and Bigoni S and Iascone M and Vivaldi I and Mayerhanser K and Kopajtich R and Prokisch H and Forest C and Eck S and Zech M and Graf E and Wagner M and Winkelmann J and Brunet T and Brugger M},
year = {2026},
journal = {Clinical genetics},
doi = {10.1111/cge.70244},
url = {https://doi.org/10.1111/cge.70244}
}RIS
TY - JOUR TI - Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis. AU - Jacob M AU - Badmann S AU - Bigoni S AU - Iascone M AU - Vivaldi I AU - Mayerhanser K AU - Kopajtich R AU - Prokisch H AU - Forest C AU - Eck S AU - Zech M AU - Graf E AU - Wagner M AU - Winkelmann J AU - Brunet T AU - Brugger M PY - 2026 JO - Clinical genetics DO - 10.1111/cge.70244 UR - https://doi.org/10.1111/cge.70244 ER -
APA
M, J., S, B., S, B., M, I., I, V., K, M., R, K., H, P., C, F., S, E., M, Z., E, G., M, W., J, W., T, B., & M, B. (2026). Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.. Clinical genetics. https://doi.org/10.1111/cge.70244
Source records
- pubmed · retrieved 2026-09-26T06:22:49.355Z