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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CD48

Variant:p.S46insFs

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CD48

NM_001778.4:p.S46insFs

hg38:chr1:160685136 A>AG

Associated Papers

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

Ilja Boor PK et al.

Human Mutation, 2006

16652334 (PubMed )

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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."