A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family
- DOI
- 10.1016/j.bbrep.2026.102764
- Published
- 2026-09
- Container
- Biochemistry and Biophysics Reports
- Publisher
- Elsevier BV
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.bbrep.2026.102764,
title = {A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family},
author = {Tehmeena Akhter and Sami Khan and Ahmed Abdul Mumeen and Muhammad Asif Naeem and Sheikh Riazuddin and Saima Riazuddin},
year = {2026},
journal = {Biochemistry and Biophysics Reports},
doi = {10.1016/j.bbrep.2026.102764},
url = {https://doi.org/10.1016/j.bbrep.2026.102764}
}RIS
TY - JOUR TI - A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family AU - Tehmeena Akhter AU - Sami Khan AU - Ahmed Abdul Mumeen AU - Muhammad Asif Naeem AU - Sheikh Riazuddin AU - Saima Riazuddin PY - 2026 JO - Biochemistry and Biophysics Reports DO - 10.1016/j.bbrep.2026.102764 UR - https://doi.org/10.1016/j.bbrep.2026.102764 ER -
APA
Akhter, T., Khan, S., Mumeen, A. A., Naeem, M. A., Riazuddin, S., & Riazuddin, S. (2026). A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family. Biochemistry and Biophysics Reports. https://doi.org/10.1016/j.bbrep.2026.102764
Source records
- crossref · retrieved 2026-09-26T09:20:04.275Z