Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
16 03 2021
16 03 2021
Historique:
received:
05
05
2020
accepted:
09
12
2020
pubmed:
29
1
2021
medline:
27
3
2021
entrez:
28
1
2021
Statut:
ppublish
Résumé
To explore the phenotypic spectrum of Individuals with Eleven affected patients were identified. All had heterozygous missense variants involving exon 9 of Although heterozygous
Identifiants
pubmed: 33504645
pii: WNL.0000000000011543
doi: 10.1212/WNL.0000000000011543
pmc: PMC8032376
doi:
Substances chimiques
RHOBTB2 protein, human
0
Tumor Suppressor Proteins
0
GTP-Binding Proteins
EC 3.6.1.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1539-e1550Subventions
Organisme : Department of Health
ID : RP-2016-07-019
Pays : United Kingdom
Informations de copyright
© 2021 American Academy of Neurology.
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pubmed: 22842232
J Med Genet. 2016 Mar;53(3):190-9
pubmed: 26740508
Neurol Genet. 2017 Mar 02;3(2):e139
pubmed: 28293679
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am J Hum Genet. 2018 Jan 4;102(1):44-57
pubmed: 29276004