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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Author(s) -
Georg F. Vogel,
Yael MozerGlassberg,
Yuval E. Landau,
Lea D. Schlieben,
Holger Prokisch,
René G. Feichtinger,
Johannes A. Mayr,
Heiko Brennenstuhl,
Julian Schröter,
Agnes Pechlaner,
Fowzan S. Alkuraya,
Joshua Baker,
Giulia Barcia,
Ivo Barić,
Nancy Braverman,
Birutė Burnytė,
John Christodoulou,
Elżbieta Ciara,
David Coman,
Anibh M. Das,
Niklas Darín,
Adela Della Marina,
Felix Distelmaier,
Erik A. Eklund,
Melike Ersoy,
Weiyan Fang,
Pauline Gaignard,
Rebecca Ganetzky,
Emmanuel Gonzalès,
Caoimhe Howard,
Joanne Hughes,
Vassiliki Konstantopoulou,
Melis Köse,
Marina Kerr,
Anzalee Khan,
Dominic Lenz,
Robert McFarland,
Merav Gil Margolis,
Kevin Morrison,
Thomas Müller,
Kei Murayama,
Emanuele Nicastro,
Alessandra Pennisi,
Heidi Peters,
Dorota PiekutowskaAbramczuk,
Agnès Rötig,
René Santer,
Fernando Scaglia,
Manuel Schiff,
Mohmmad Shagrani,
Mark Sharrard,
Claudia SolerAlfonso,
Christian Staufner,
Imogen Storey,
Michael Stormon,
Robert W. Taylor,
David R. Thorburn,
Elisa Leão Teles,
JianShe Wang,
Daniel Weghuber,
Saskia B. Wortmann
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.09.015
Subject(s) - liver transplantation , genotype , phenotype , medicine , liver disease , survival analysis , retrospective cohort study , pediatrics , gastroenterology , transplantation , biology , genetics , gene

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