Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN2
Variant:p.Q46Splc
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GEMIN2

NM_003616.3:p.Q46Splc

Associated Papers

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype.

Garcia-Barceló MM et al.

Journal of Medical Genetics, 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."