Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.L609L
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SMC1A

NM_006306.4:p.L609L

Associated Papers

A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.

Pourahmadiyan A et al.

The International Journal of Neuroscience, 2021

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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."