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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
- Source :
- Annals of Indian Academy of Neurology, Vol 22, Iss 4, Pp 523-524 (2019)
- Publication Year :
- 2019
- Publisher :
- Wolters Kluwer Medknow Publications, 2019.
- Subjects :
- Neurology. Diseases of the nervous system
RC346-429
Subjects
Details
- Language :
- English
- ISSN :
- 09722327, 19983549, and 80975941
- Volume :
- 22
- Issue :
- 4
- Database :
- Directory of Open Access Journals
- Journal :
- Annals of Indian Academy of Neurology
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.79553da01ff24c3a80975941fc38df5a
- Document Type :
- article
- Full Text :
- https://doi.org/10.4103/aian.AIAN_2_19