Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
- DOI
- 10.1038/s41431-023-01378-w
- Published
- 2023-07-18
- Container
- European Journal of Human Genetics
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1038/s41431-023-01378-w,
title = {Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants},
author = {Alireza Haghighi and Zahra Alvandi and Yalda Nilipour and Amirreza Haghighi and Ruth Kornreich and Shahriar Nafissi and Robert J. Desnick},
year = {2023},
journal = {European Journal of Human Genetics},
doi = {10.1038/s41431-023-01378-w},
url = {https://doi.org/10.1038/s41431-023-01378-w}
}RIS
TY - JOUR TI - Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants AU - Alireza Haghighi AU - Zahra Alvandi AU - Yalda Nilipour AU - Amirreza Haghighi AU - Ruth Kornreich AU - Shahriar Nafissi AU - Robert J. Desnick PY - 2023 JO - European Journal of Human Genetics DO - 10.1038/s41431-023-01378-w UR - https://doi.org/10.1038/s41431-023-01378-w ER -
APA
Haghighi, A., Alvandi, Z., Nilipour, Y., Haghighi, A., Kornreich, R., Nafissi, S., & Desnick, R. J. (2023). Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. European Journal of Human Genetics. https://doi.org/10.1038/s41431-023-01378-w
Source records
- crossref · retrieved 2026-11-10T14:57:29.778Z