De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood-Reference-Cited by-同舟云学术

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Published:2023-07 Issue:7 Volume:25 Page:100838
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Reijnders Margot R.F.,Seibt Annette,Brugger Melanie,Lamers Ideke J.C.,Ott Torsten,Klaas Oliver,Horváth Judit,Rose Ailsa M.S.,Craghill Isabel M.,Brunet Theresa,Graf Elisabeth,Mayerhanser Katharina,Hellebrekers Debby,Pauck David,Neuen-Jacob Eva,Rodenburg Richard J.T.,Wieczorek Dagmar,Klee Dirk,Mayatepek Ertan,Driessen Gertjan,Bindermann Robert,Averdunk Luisa,Lohmeier Klaus,Sinnema Margje,Stegmann Alexander P.A.,Roepman Ronald,Poulter James A.,Distelmaier Felix^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

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1. Ragopathies and the rising influence of RagGTPases on human diseases;Nature Communications;2024-07-10

2. RRAGD-Associated Autosomal Dominant Kidney Hypomagnesemia with Cardiomyopathy: A Review on the Clinical Manifestations and Therapeutic Options;Kidney and Blood Pressure Research;2024