A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss
- DOI
- 10.6084/m9.figshare.30302490.v1
- Published
- 2025
- Container
- Not recorded
- Publisher
- Taylor & Francis
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.6084/m9.figshare.30302490.v1,
title = {A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss},
author = {Lauren Y. Cao and Anna Duemler and Emily H. Jung and Ramiro S. Maldonado and Sarah Richards and Elena R. Schiff and Omar A. Mahroo and Andrew R. Webster and Siying Lin and Beau J. Fenner and Alessandro Iannaccone and Oleg Alekseev},
year = {2025},
doi = {10.6084/m9.figshare.30302490.v1},
url = {https://doi.org/10.6084/m9.figshare.30302490.v1}
}RIS
TY - JOUR TI - A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss AU - Lauren Y. Cao AU - Anna Duemler AU - Emily H. Jung AU - Ramiro S. Maldonado AU - Sarah Richards AU - Elena R. Schiff AU - Omar A. Mahroo AU - Andrew R. Webster AU - Siying Lin AU - Beau J. Fenner AU - Alessandro Iannaccone AU - Oleg Alekseev PY - 2025 DO - 10.6084/m9.figshare.30302490.v1 UR - https://doi.org/10.6084/m9.figshare.30302490.v1 ER -
APA
Cao, L. Y., Duemler, A., Jung, E. H., Maldonado, R. S., Richards, S., Schiff, E. R., Mahroo, O. A., Webster, A. R., Lin, S., Fenner, B. J., Iannaccone, A., & Alekseev, O. (2025). A novel missense <i>TUBB4B</i> variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss. https://doi.org/10.6084/m9.figshare.30302490.v1
Source records
- datacite · retrieved 2026-11-10T11:17:36.138Z