Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1

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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1

Author: Lenz, Dominic; Smith, Desiree E. C.; Crushell, Ellen; Husain, Ralf A.; Salomons, Gajja S.; Alhaddad, Bader; Bernstein, Jonathan A.; Bianzano, Alyssa; Biskup, Saskia; Brennenstuhl, Heiko; Caldari, Dominique; Dikow, Nicola; Haack, Tobias B.; Hanson-Kahn, Andrea; Harting, Inga; Horn, Denise; Hughes, Joanne; Huijberts, Maya; Isidor, Bertrand; Kathemann, Simone; Kopajtich, Robert; Kotzaeridou, Urania; Kuery, Sebastien; Lainka, Elke; Laugwitz, Lucia; Lupski, James R.; Posey, Jennifer E.; Reynolds, Claire; Rosenfeld, Jill A.; Schroeter, Julian; Vansenne, Fleur; Wagner, Matias; Weiss, Claudia; Wolffenbuttel, Bruce H. R.; Wortmann, Saskia B.; Koelker, Stefan; Hoffmann, Georg F.; Prokisch, Holger; Mendes, Marisa, I; Staufner, Christian
Tübinger Autor(en):
Laugwitz, Lucia
Haack, Tobias
Published in: Genetics in Medicine (2020), Bd. 22, S. 1863-1873
Verlagsangabe: Nature Publishing Group
Language: English
Full text: http://dx.doi.org/10.1038/s41436-020-0904-4
ISSN: 1530-0366
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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