Varaico: Literature-Extracted Genetic Variants

Gene:DRAM2
Variant:p.Y75del1
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DRAM2

NM_001349884.2:p.Y75del1

Associated Papers

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."