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Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier

Eur J Hum Genet. 2017 Sep; 25(9): 1092–1095. Published online 2017 Jun 14. doi: 10.1038/ejhg.2017.96

PMCID:: PMC5558179

Abstract Article PDF–1.1M

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PMC Links for Nucleotide (Select 163965386) (1)
PMC
Abcb9 ATP-binding cassette, sub-family B member 9 [Mus musculus]
Abcb9 ATP-binding cassette, sub-family B member 9 [Mus musculus]
Gene ID:56325

Gene
PPP1R3B protein phosphatase 1 regulatory subunit 3B [Homo sapiens]
PPP1R3B protein phosphatase 1 regulatory subunit 3B [Homo sapiens]
Gene ID:79660

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BioProject Links for Protein (Select 611657366) (1)
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