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Large Phenotypic Variation of Individuals from a Family with a Novel

Authors :
Randi, von Wrede
Martin, Schidlowski
Hans-Jürgen, Huppertz
Theodor, Rüber
Anja, Ivo
Tobias, Baumgartner
Kerstin, Hallmann
Gábor, Zsurka
Christoph, Helmstaedter
Rainer, Surges
Wolfram S, Kunz
Source :
Genes. 13(3)
Publication Year :
2021

Abstract

Here, we report a consanguineous family harboring a novel homozygous frame-shift mutation in

Details

ISSN :
20734425
Volume :
13
Issue :
3
Database :
OpenAIRE
Journal :
Genes
Accession number :
edsair.pmid..........5adb909cb74c5d54cc2955c4dba3b32e