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O17 – 1786 Exome sequencing reveals heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy but extreme phenotypic variability

✍ Scribed by Blumkin, L; Leshinsky-Silver, E; Zerem, A; Yosovich, K; Jalas, C; Lev, D; Lerman-Sagie, T


Book ID
122001095
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
63 KB
Volume
17
Category
Article
ISSN
1090-3798

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