Identification and in Silico Characterization of a Novel CASK c.2546T>C (p.V849A) Mutation in a Male Infant with Pontocerebellar Hypoplasia

Ann Indian Acad Neurol. 2019 Oct-Dec;22(4):523-524. doi: 10.4103/aian.AIAN_2_19. Epub 2019 Oct 25.

¹ Department of Genetics, Rainbow Children's Hospital, Banjara Hills Road No: 2, Hyderabad, Andhra Pradesh, India.
² Department of Biochemical Genetics and Pharmacogenomics, Sandor Speciality Diagnostics Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, Andhra Pradesh, India.

No abstract available