Varaico: Literature-Extracted Genetic Variants

Gene:ECE1
Variant:p.G17_M18Splc
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ECE1

NM_001397.3:p.G17_M18Splc

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."