Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly-Reference-Cited by-同舟云学术

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Published:2021-01 Issue:2 Volume:109 Page:241-256.e9
ISSN:0896-6273
Container-title:Neuron
language:en
Short-container-title:Neuron

Author:

Chai Guoliang,Webb Alice,Li Chen^ORCID,Antaki Danny^ORCID,Lee Sangmoon,Breuss Martin W.,Lang Nhi,Stanley Valentina,Anzenberg Paula,Yang Xiaoxu,Marshall Trevor,Gaffney Patrick^ORCID,Wierenga Klaas J.,Chung Brian Hon-Yin,Tsang Mandy Ho-Yin,Pais Lynn S.,Lovgren Alysia Kern,VanNoy Grace E.,Rehm Heidi L.,Mirzaa Ghayda^ORCID,Leon Eyby^ORCID,Diaz Jullianne^ORCID,Neumann Alexander^ORCID,Kalverda Arnout P.,Manfield Iain W.,Parry David A.,Logan Clare V.,Johnson Colin A.,Bonthron David T.^ORCID,Valleley Elizabeth M.A.,Issa Mahmoud Y.^ORCID,Abdel-Ghafar Sherif F.,Abdel-Hamid Mohamed S.,Jennings Patricia,Zaki Maha S.,Sheridan Eamonn,Gleeson Joseph G.^ORCID

Funder

National Institutes of Health

Simons Foundation Autism Research Initiative

Publisher

Elsevier BV

Subject

General Neuroscience

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