A novel homozygous missense variant in the GAMT gene causing cerebral creatine deficiency syndrome 2 in an Iranian patient: molecular dynamics insights and literature review.
- DOI
- 10.1186/s12920-026-02451-1
- Published
- 2026 Aug 10
- Container
- BMC medical genomics
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1186/s12920-026-02451-1,
title = {A novel homozygous missense variant in the GAMT gene causing cerebral creatine deficiency syndrome 2 in an Iranian patient: molecular dynamics insights and literature review.},
author = {Al-Karim A and Khosravi T and Hajmohammadi M and Mohsenipour M and Kowsari A and Golalipour M and Samaei NM and Oladnabi M},
year = {2026},
journal = {BMC medical genomics},
doi = {10.1186/s12920-026-02451-1},
url = {https://doi.org/10.1186/s12920-026-02451-1}
}RIS
TY - JOUR TI - A novel homozygous missense variant in the GAMT gene causing cerebral creatine deficiency syndrome 2 in an Iranian patient: molecular dynamics insights and literature review. AU - Al-Karim A AU - Khosravi T AU - Hajmohammadi M AU - Mohsenipour M AU - Kowsari A AU - Golalipour M AU - Samaei NM AU - Oladnabi M PY - 2026 JO - BMC medical genomics DO - 10.1186/s12920-026-02451-1 UR - https://doi.org/10.1186/s12920-026-02451-1 ER -
APA
A, A., T, K., M, H., M, M., A, K., M, G., NM, S., & M, O. (2026). A novel homozygous missense variant in the GAMT gene causing cerebral creatine deficiency syndrome 2 in an Iranian patient: molecular dynamics insights and literature review.. BMC medical genomics. https://doi.org/10.1186/s12920-026-02451-1
Source records
- pubmed · retrieved 2026-11-10T18:59:32.490Z