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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

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Description scientific article published on 03 May 2021
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author: Alain Verloes  Gaetan Lesca  Lyse Ruaud  Nicolas Chatron  Annick Toutain  Jamal Ghoumid  Frédéric Laumonnier  Thomas Smol 

Publication date May 3, 2021
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