Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.
基因检测结果解读对Cohen综合征中VPS13B错义变异的影响
期刊:Frontiers in Neuroscience
影响因子:3.2
doi:10.3389/fnins.2024.1488133
Schottmann Gudrun, MartÃnez Almudéver Carmen, Knop Julia C M, Suk Eun Kyung, Meyer Zianka, Kohlhase Jürgen, Himmelreich Nastassja, Kühnisch Jirko, Ott Claus-Eric, Seifert Wenke