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Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Puneeth H. Somashekar, Parneet Kaur, Joshi Stephen, Vishal Singh Guleria, Rajagopal Kadavigere, Katta Mohan Girisha, Stephanie Bielas, Priyanka Upadhyai, Anju Shukla
Research output: Contribution to journal › Article › peer-review
6
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(Scopus)