Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy - Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Reka Kovacs-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann - Dissemin

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Cell Press, American Journal of Human Genetics, 2(98), p. 358-362

DOI: 10.1016/j.ajhg.2015.12.009

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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Journal article published in 2016 by Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Reka Kovacs-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann and other authors.

This paper is made freely available by the publisher.

This paper is made freely available by the publisher.

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