Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS18
Variant:p.R1047*
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ADAMTS18

NM_199355.4:p.R1047*

Associated Papers

Concurrent inheritance of achromatopsia and MMAT syndrome in a pedigree: Genetic and clinical insights.

Aghasipour M et al.

European Journal of Medical Genetics, 2025

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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."