Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.R2K
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ACHE

NM_000665.5:p.R2K

Associated Papers

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

Fitze G et al.

Human Molecular 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."