Annals of Indian Academy of Neurology
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Identification and in silico characterization of a Novel CASK c.2546T>C (p.V849A) Mutation in a male infant with pontocerebellar hypoplasia


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

Correspondence Address:
Akella Radha Rama Devi,
Consultant Paediatrician and Geneticist, Sandor Speciality Diagnostics Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad - 500 034
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_2_19



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