A Relatively Common Homozygoustrappc4Splicing Variant Is Associated with an Early-Infantile Neurodegenerative Syndrome

AuthID
P-00S-Q37
46
Author(s)
Ghosh, SG
·
Scala, M
·
Beetz, C
·
Helman, G
·
Stanley, V
·
[+4]·
[+1]·
[+7]·
[+3]·
[+1]·
[+6]·
[+4]·
Issa, MY
·
Gleeson, JG
1
Group Author(s)
Undiagnosed Dis Network
Document Type
Article in Press
Year published
2020
Published
in EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: 1018-4813
Indexing
Publication Identifiers
Scopus: 2-s2.0-85090433089
Wos: WOS:000567374800001
Source Identifiers
ISSN: 1018-4813
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Name Order Name   Name Order Name   Name Order Name
1 Ghosh, SG;   2 Scala, M;   3 Beetz, C;
4 Helman, G;   5 Stanley, V;   6 Yang, XX;
7 Breuss, MW;   8 Mazaheri, N;   9 Selim, L;
10 Hadipour, F;   11 Pais, L;   12 Stutterd, CA;
13 Karageorgou, V;   14 Begtrup, A;   15 Crunk, A;
16 Juusola, J;   17 Willaert, R;   18 Flore, LA;
19 Kennelly, K;   20 Spencer, C;   21 Brown, M;
22 Trapane, P;   23 Hurst, ACE;   24 Rutledge, SL;
25 Goodloe, DH;   26 McDonald, MT;   27 Shashi, V;
28 Schoch, K;   29 Tomoum, H;   30 Zaitoun, R;
31 Hadipour, Z;   32 Galehdari, H;   33 Pagnamenta, AT;
34 Mojarrad, M;   35 Sedaghat, A;   36 Dias, P;
37 Quintas, S;   38 Eslahi, A;   39 Shariati, G;
40 Bauer, P;   41 Simons, C;   42 Houlden, H;
43 Issa, MY;   44 Zaki, MS;   45 Maroofian, R;
46 Gleeson, JG;