AUTHOR=Schottmann Gudrun , Martínez Almudéver Carmen , Knop Julia C. M. , Suk Eun Kyung , Meyer Zianka , Kohlhase Jürgen , Himmelreich Nastassja , Kühnisch Jirko , Ott Claus-Eric , Seifert Wenke 

TITLE=Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome

JOURNAL=Frontiers in Neuroscience

VOLUME=18

YEAR=2024

URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2024.1488133

DOI=10.3389/fnins.2024.1488133

ISSN=1662-453X