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Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Dipti Baskar,Seena Vengalil,Kiran Polavarapu,Veeramani Preethish-Kumar,Gautham Arunachal, Ramya Sukrutha,Mainak Bardhan,Akshata Huddar,Gopikrishnan Unnikrishnan,Girish Baburao Kulkarni,Yasha T. Chickabasaviah, Rashmi Santhosh Kumar,Atchayaram Nalini,Saraswati Nashi

GLOBAL MEDICAL GENETICS（2024）

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Key words
ORAI-1,ophthalmoparesis,congenital myopathy,congenital fiber-type disproportion
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