Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.S44N
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DRAM2

NM_001349884.2:p.S44N

Associated Papers

Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.

Lee YJ et al.

Stem Cell Reviews and Reports, 2025

Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation.

Tsikandelova R et al.

Stem Cell Reports, 2024

The Clinical Spectrum and Disease Course of DRAM2 Retinopathy.

Krašovec T et al.

International Journal of Molecular Sciences, 2022

New insights into the pathogenicity of non-synonymous variants through multi-level analysis.

Sun H et al.

Scientific Reports, 2019

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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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."