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Title:

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Document type:
Zeitschriftenaufsatz
Author(s):
Appelhof, Bart; Wagner, Matias; Hoefele, Julia; Heinze, Anja; Roser, Timo; Koch-Hogrebe, Margarete; Roosendaal, Stefan D.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Torti, Erin; Houlden, Henry; Maroofian, Reza; Rajabi, Farrah; Sticht, Heinrich; Baas, Frank; Wieczorek, Dagmar; Jamra, Rami Abou
Journal title:
European Journal of Human Genetics
Year:
2020
Fulltext / DOI:
doi:10.1038/s41431-020-00749-x
Publisher:
Springer Science and Business Media LLC
E-ISSN:
1018-48131476-5438
Date of publication:
09.11.2020
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