IMNEPD
PTRH2 gene
PTRH2 variants
autosomal recessive disorder
bioinformatics analysis
clinical features
rare genetic diseases
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
30 04 2023
30 04 2023
Historique:
received:
08
03
2023
revised:
25
04
2023
accepted:
28
04
2023
medline:
29
5
2023
pubmed:
27
5
2023
entrez:
27
5
2023
Statut:
epublish
Résumé
Peptidyl-tRNA hydrolase 2 (PTRH2) is an evolutionarily highly conserved mitochondrial protein. The biallelic mutations in the
Identifiants
pubmed: 37239392
pii: genes14051031
doi: 10.3390/genes14051031
pmc: PMC10217894
pii:
doi:
Substances chimiques
Codon, Nonsense
0
PTH2 protein, human
EC 3.1.1.29
Carboxylic Ester Hydrolases
EC 3.1.1.-
Mitochondrial Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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