Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV

Periyasamy Radhakrishnan, Amita Moirangthem, Shalini S. Nayak, Anju Shukla, Mary Mathew, Katta M. Girisha

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology