A Novel Variant in
nemaline myopathy
pathogenic variant
thin filament
tropomyosin
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
09 Nov 2023
09 Nov 2023
Historique:
received:
12
10
2023
revised:
31
10
2023
accepted:
06
11
2023
medline:
27
11
2023
pubmed:
25
11
2023
entrez:
25
11
2023
Statut:
epublish
Résumé
A novel variant of unknown significance c.8A > G (p.Glu3Gly) in
Identifiants
pubmed: 38003336
pii: ijms242216147
doi: 10.3390/ijms242216147
pmc: PMC10671854
pii:
doi:
Substances chimiques
Actins
0
Tropomyosin
0
Myosins
EC 3.6.4.1
Troponin
0
TPM3 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : the Polish Minister of Education and Science under the program "Regional Initiative of Excel-lence" in 2019-2023
ID : Grant No. 008/RID/2018/19
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