Associated Papers
The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.
Krašovec T et al.
International Journal of Molecular Sciences, 2022
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
32340307 (PubMed )
Supplement: genes-11-00460-s001.pdf
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Sergouniotis PI et al.
Investigative Ophthalmology & Visual Science, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag ME et al.
American Journal of Human Genetics, 2015
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