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- Title:
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Kremer, Laura S.; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F.; Strom, Tim M.; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger; Haack, Tobias B.
- Journal title:
- The American Journal of Human Genetics
- Year:
- 2016
- Journal volume:
- 98
- Journal issue:
- 2
- Pages contribution:
- 358-362
- Fulltext / DOI:
- doi:10.1016/j.ajhg.2015.12.009
- Publisher:
- Elsevier BV
- E-ISSN:
- 0002-9297
- Date of publication:
- 01.02.2016
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