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

    Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome by Gudrun Schottmann, Carmen Martínez Almudéver, Julia C. M. Knop, Eun Kyung Suk, Zianka Meyer, Jürgen Kohlhase, Nastassja Himmelreich, Nastassja Himmelreich, Jirko Kühnisch, Jirko Kühnisch, Claus-Eric Ott, Wenke Seifert

    Published 2024-12-01
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