Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.E762Splc
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RET

NM_020975.6:p.E762Splc

Associated Papers

Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease.

Griseri P et al.

Gut, 2003

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Seri M et al.

Human Mutation, 1997

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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."