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pro vyhledávání: '"Lioba Lehmann"'
Autor:
Laura Holthöfer, Stefan Diederich, Verena Haug, Lioba Lehmann, Charlotte Hewel, Norbert W. Paul, Susann Schweiger, Susanne Gerber, Matthias Linke
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-8 (2024)
Abstract Adaptive nanopore sequencing as a diagnostic method for imprinting disorders and episignature analysis revealed an intragenic duplication of Exon 6 and 7 in UBE3A (NM_000462.5) in a patient with relatively mild Angelman-like syndrome. In an
Externí odkaz:
https://doaj.org/article/3d509ae199d648309382254570d89142
