Varaico: Literature-Extracted Genetic Variants

Gene:ECE1
Variant:p.L45L
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ECE1

NM_001397.3:p.L45L

Associated Papers

Hirschsprung's disease as a model of complex genetic etiology.

Borrego S et al.

Histology and Histopathology, 2013

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.

Smigiel R et al.

Journal of Applied Genetics, 2006

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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."