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Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.
Martin Krenn
Ivan Milenkovic
Gertrud Eckstein
Fritz Zimprich
Thomas Meitinger
Thomas Foki
Matias Wagner
Published in:
Neurology. Genetics (2019)
Keyphrases
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single cell
copy number
early onset
dna methylation
genome wide