Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome-Reference-Cited by-同舟云学术

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

Published:2023-12 Issue:12 Volume:110 Page:2112-2119
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Engal Eden,Oja Kaisa Teele,Maroofian Reza,Geminder Ophir,Le Thuy-Linh,Marzin Pauline,Guimier Anne,Mor Evyatar,Zvi Naama,Elefant Naama,Zaki Maha S.,Gleeson Joseph G.,Muru Kai,Pajusalu Sander,Wojcik Monica H.,Pachat Divya,Elmaksoud Marwa Abd,Chan Jeong Won,Lee Hane,Bauer Peter,Zifarelli Giovanni,Houlden Henry,Daana Muhannad,Elpeleg Orly,Amiel Jeanne,Lyonnet Stanislas,Gordon Christopher T.,Harel Tamar,Õunap Katrin,Salton Maayan,Mor-Shaked Hagar^ORCID

Funder

MSDAVENIR

Agence Nationale de la Recherche

National Heart, Lung, and Blood Institute

AXA Research Fund

National Human Genome Research Institute

Eesti Teadusagentuur

National Institute of Child Health and Human Development

National Eye Institute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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