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Revisiting Mendelian disorders through exome sequencing

โœ Scribed by Chee-Seng Ku; Nasheen Naidoo; Yudi Pawitan


Book ID
106135116
Publisher
Springer
Year
2011
Tongue
English
Weight
342 KB
Volume
129
Category
Article
ISSN
0340-6717

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## Abstract Neuroacanthocytoses are neurodegenerative disorders marked by phenotypic and genetic heterogeneity. There are several associated genetic loci, and many defects, including gene deletions and insertions, and missense, nonsense, and splicing mutations, have been found spread over hundreds