VARS1
mutation modeling
protein stability
psychomotor retardation
structural modeling
whole exome sequencing
Journal
Turkish journal of biology = Turk biyoloji dergisi
ISSN: 1303-6092
Titre abrégé: Turk J Biol
Pays: Turkey
ID NLM: 9434434
Informations de publication
Date de publication:
2022
2022
Historique:
received:
19
01
2022
revised:
19
12
2022
accepted:
05
12
2022
medline:
2
8
2023
pubmed:
2
8
2023
entrez:
2
8
2023
Statut:
epublish
Résumé
Majority of 37 human aminoacyl tRNA synthetases have been incriminated in diverse, mostly recessive, genetic diseases. In accordance with this, we uncovered a novel homozygous valyl-tRNA synthetase 1 (
Identifiants
pubmed: 37529793
doi: 10.55730/1300-0152.2631
pii: turkjbiol-46-6-458
pmc: PMC10388123
doi:
Types de publication
Journal Article
Langues
eng
Pagination
458-464Informations de copyright
© TÜBİTAK.
Déclaration de conflit d'intérêts
Conflict of interest All authors declare lack of conflict of interest in relation to this report.
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