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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL13

Variant:p.A102_I103Splc

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MRPL13

NM_014078.6:p.A102_I103Splc

hg38:chr8:120419953 T>C

Associated Papers

Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.

Mori S et al.

Journal of Human Genetics, 2011

21850007 (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."