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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Reco..:

Muir, Alison M ; Cohen, Jennifer L ; Sheppard, Sarah E...
https://portal.findresearcher.sdu.dk/da/publications/54f38658-6b11-441d-b45a-08e35077d662. , 2020

Link: https://portal.findresearcher.sdu.dk/da/publications/5..

RT Journal
T1 <Title>Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftsydanskunivpub:oai:sdu.dk:publications_54f38658-6b11-441d-b45a-08e35077d662&Exemplar=1&LAN=DE
				
A1 Muir, Alison M
A1 Cohen, Jennifer L
A1 Sheppard, Sarah E
A1 Guttipatti, Pavithran
A1 Lo, Tsz Y
A1 Weed, Natalie
A1 Doherty, Dan
A1 DeMarzo, Danielle
A1 Fagerberg, Christina R
A1 Kjærsgaard, Lars
A1 Larsen, Martin J
A1 Rump, Patrick
A1 Löhner, Katharina
A1 Hirsch, Yoel
A1 Zeevi, David A
A1 Zackai, Elaine H
A1 Bhoj, Elizabeth
A1 Song, Yuanquan
A1 Mefford, Heather C
YR 2020
JF https://portal.findresearcher.sdu.dk/da/publications/54f38658-6b11-441d-b45a-08e35077d662
LK http://dx.doi.org/https://portal.findresearcher.sdu.dk/da/publications/54f38658-6b11-441d-b45a-08e35077d662
DO https://portal.findresearcher.sdu.dk/da/publications/54f38658-6b11-441d-b45a-08e35077d662
SF ELIB - SuUB Bremen

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