Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration-Reference-Cited by-同舟云学术

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Published:2023-01 Issue:1 Volume:110 Page:146-160
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Muffels Irena J.J.^ORCID,Schene Imre F.,Rehmann Holger,Massink Maarten P.G.,van der Wal Maria M.,Bauder Corinna,Labeur Martha,Armando Natalia G.,Lequin Maarten H.,Houben Michiel L.,Giltay Jaques C.,Haitjema Saskia,Huisman Albert,Vansenne Fleur,Bluvstein Judith,Pappas John,Shailee Lala V.,Zarate Yuri A.,Mokry Michal,van Haaften Gijs W.,Nieuwenhuis Edward E.S.,Refojo Damian,van Wijk Femke,Fuchs Sabine A.,van Hasselt Peter M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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