Published in
Wiley, Human Mutation: Variation, Informatics and Disease, 7(42), p. 848-861, 2021
DOI: 10.1002/humu.24208
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
Journal article published in 2021 by
Judith Halewa,
Sylviane Marouillat,
Manon Dixneuf,
Rose‐Anne Thépault,
Dévina C. Ung,
Nicolas Chatron 
,
Bénédicte Gérard,
Jamal Ghoumid ,
Gaëtan Lesca ,
Marianne Till,
Thomas Smol ,
Nathalie Couque,
Lyse Ruaud ,
Valérie Chune,
Sarah Grotto
and other authors.
,
Bénédicte Gérard,
Jamal Ghoumid ,
Gaëtan Lesca ,
Marianne Till,
Thomas Smol ,
Nathalie Couque,
Lyse Ruaud ,
Valérie Chune,
Sarah Grotto
and other authors.
This paper is made freely available by the publisher.
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