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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAPK6

Variant:p.Q379H

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MAPK6

NM_002748.4:p.Q379H

hg38:chr15:52063971 G>C

Associated Papers

Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.

Sio CA et al.

Pediatric Research, 2017

28399120 (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."