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Title:

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Document type:
Meeting Abstract
Author(s):
Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Horga, Alejandro; Martinez-Agosto, Julian A.; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Vici, Carlo...     »
Journal title abbreviation:
Eur J Hum Genet
Year:
2023
Journal volume:
31 Suppl 1
Pages contribution:
24-25
Print-ISSN:
1018-4813
TUM Institution:
183; Institut für Humangenetik (Prof. Winkelmann)
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