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

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

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

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