Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in <i>NBAS</i> and description of the associated phenotype
- DOI
- 10.1002/mgg3.2120
- Published
- 2022-12-08
- Container
- Molecular Genetics & Genomic Medicine
- Publisher
- Wiley
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1002/mgg3.2120,
title = {Characterization of a novel non‐canonical splice site variant (c.886‐5T\>A) in <i>NBAS</i> and description of the associated phenotype},
author = {Claudia S. Priglinger and Günter Rudolph and Irene Schmid and Pascale Mazzola and Tobias B. Haack and Milda Reith and Katarina Stingl and Nicole Weisschuh},
year = {2022},
journal = {Molecular Genetics \& Genomic Medicine},
doi = {10.1002/mgg3.2120},
url = {https://doi.org/10.1002/mgg3.2120}
}RIS
TY - JOUR TI - Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in <i>NBAS</i> and description of the associated phenotype AU - Claudia S. Priglinger AU - Günter Rudolph AU - Irene Schmid AU - Pascale Mazzola AU - Tobias B. Haack AU - Milda Reith AU - Katarina Stingl AU - Nicole Weisschuh PY - 2022 JO - Molecular Genetics & Genomic Medicine DO - 10.1002/mgg3.2120 UR - https://doi.org/10.1002/mgg3.2120 ER -
APA
Priglinger, C. S., Rudolph, G., Schmid, I., Mazzola, P., Haack, T. B., Reith, M., Stingl, K., & Weisschuh, N. (2022). Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in <i>NBAS</i> and description of the associated phenotype. Molecular Genetics & Genomic Medicine. https://doi.org/10.1002/mgg3.2120
Source records
- crossref · retrieved 2026-09-24T23:06:44.945Z