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pro vyhledávání: '"Manon Dixneuf"'
Autor:
Sylviane Marouillat, Marie-Laure Vuillaume, Thomas Smol, Rose-Anne Thépault, Lyse Ruaud, Sarah Grotto, Jamal Ghoumid, Nicolas Chatron, Annick Toutain, Marianne Till, Alain Verloes, Manon Dixneuf, Valérie Chune, Gaetan Lesca, Frédéric Laumonnier, Nathalie Couque, Bénédicte Gérard, Martine Raynaud, Judith Halewa, Dévina C. Ung
Publikováno v:
Human Mutation
Human Mutation, 2021, 42 (7), pp.848-861. ⟨10.1002/humu.24208⟩
Human Mutation, Wiley, 2021, 42 (7), pp.848-861. ⟨10.1002/humu.24208⟩
Human Mutation, 2021, 42 (7), pp.848-861. ⟨10.1002/humu.24208⟩
Human Mutation, Wiley, 2021, 42 (7), pp.848-861. ⟨10.1002/humu.24208⟩
The X‐linked PTCHD1 gene, encoding a synaptic membrane protein, has been involved in neurodevelopmental disorders with the description of deleterious genomic microdeletions or truncating coding mutations. Missense variants were also identified, how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c017ec9714bbb1fe1e248f6d9bb343ca
https://www.hal.inserm.fr/inserm-03273379/document
https://www.hal.inserm.fr/inserm-03273379/document