Associated Papers
NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.
Manjunath U et al.
Frontiers in Neuroscience, 2025
41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2
Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.
El Matri K et al.
Genes, 2021
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.
Sallo FB et al.
Ophthalmology Science, 0
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