Varaico: Literature-Extracted Genetic Variants

Gene:CSMD3
Variant:p.R3655Splc
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CSMD3

NM_198123.2:p.R3655Splc

Associated Papers

A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.

Shimizu A et al.

Biochemical and Biophysical Research Communications, 2003

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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."