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Genetics in Medicine Open
(Jan 2024)
P154: The second known case of CNP-related hypomyelinating leukodystrophy is diagnosed by RNA-seq and demonstrates an abnormal blood methylation profile*
Joseph Farris,
Jia Tan,
Emily Blake,
Nancy William,
Ralitza Gavrilova,
Eric Klee
Affiliations
Joseph Farris
Mayo Clinic
Jia Tan
Mayo Clinic
Emily Blake
Mayo Clinic
Nancy William
Mayo Clinic
Ralitza Gavrilova
Mayo Clinic
Eric Klee
Mayo Clinic
Journal volume & issue
Vol. 2
p. 101051
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