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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSB

Variant:p.M1_A6del0

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CTSB

NM_001908.5:p.M1_A6del0

hg38:chr8:11853436 AGGCCCAGAGCTGCCACAT>A

Associated Papers

Molecular background of EPM1-Unverricht-Lundborg disease.

Joensuu T et al.

Epilepsia, 2008

18028412 (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."