The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.
DRAM2
electrophysiology
fundus autofluorescence imaging
genetic spectrum
genotype–phenotype correlation
inherited retinal dystrophy
phenotype variability
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:
02 Jul 2022
02 Jul 2022
Historique:
received:
31
05
2022
revised:
22
06
2022
accepted:
28
06
2022
entrez:
9
7
2022
pubmed:
10
7
2022
medline:
14
7
2022
Statut:
epublish
Résumé
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (
Identifiants
pubmed: 35806404
pii: ijms23137398
doi: 10.3390/ijms23137398
pmc: PMC9266529
pii:
doi:
Substances chimiques
DRAM2 protein, human
0
Membrane Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Slovenian Research Agency
ID : ARRS J3-1750
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