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Identification of a Novel GRM1 Frameshift Variant in Two Pakistani Families Broadens the Genetic Landscape of Ultra-Rare Spinocerebellar Ataxia Type 13

Crossref DOI link: https://doi.org/10.1007/s12311-025-01897-w

Published Online: 2025-08-27

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Ahmad, Riaz

Zamani, Mina

Self, Eleanor

Shah, Salah Ud Din

Naeem, Muhammad

Houlden, Henry
Funding

Funding for this research was provided by:

Higher Education Commision, Pakistan (IRSIP 52 BMS 22)
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Article History

Received: 19 March 2025

Accepted: 10 August 2025

First Online: 27 August 2025

Declarations

:

: The study was approved by the Ethics Review Committee of Quaid-i-Azam University Islamabad.

: Informed consent was obtained from the enrolled family to participate in the study.

: Informed consent was obtained from the enrolled families to allow publication of the clinical and diagnostic information collected in the study.

: The authors declare no competing interests.

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