Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.W3del1
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DRAM2

NM_001349884.2:p.W3del1

Associated Papers

Lack of retinal degeneration in a Dram2 knockout mouse model.

Sun K et al.

Vision Research, 2025

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.

Krašovec T et al.

International Journal of Molecular Sciences, 2022

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Yang L et al.

Scientific Reports, 2020

32218477 (PubMed )
Supplement: 41598_2020_62119_MOESM2_ESM.xlsx › Sheet1

Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy.

Kuniyoshi K et al.

International Journal of Molecular Sciences, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."