Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.V147A
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ACHE

NM_000665.5:p.V147A

Associated Papers

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

Virtanen VB et al.

European Journal of Medical Genetics, 2019

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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."