Published in
Cell Press, American Journal of Human Genetics, 8(110), p. 1377-1393, 2023
DOI: 10.1016/j.ajhg.2023.06.012
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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Journal article published in 2023 by
Manuela Morleo 
,
Rossella Venditti,
Evangelos Theodorou,
Lauren C. Briere,
Marion Rosello,
Alfonsina Tirozzi,
Roberta Tammaro,
Nour Al-Badri,
Frances A. High,
Jiahai Shi,
Elena Putti,
Luigi Ferrante,
Viviana Cetrangolo,
Annalaura Torella,
Melissa A. Walker
and other authors.
,
Rossella Venditti,
Evangelos Theodorou,
Lauren C. Briere,
Marion Rosello,
Alfonsina Tirozzi,
Roberta Tammaro,
Nour Al-Badri,
Frances A. High,
Jiahai Shi,
Elena Putti,
Luigi Ferrante,
Viviana Cetrangolo,
Annalaura Torella,
Melissa A. Walker
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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