Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.L118delFs
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RET

NM_020975.6:p.L118delFs

Associated Papers

SLIT2/ROBO1-miR-218-1-RET/PLAG1: a new disease pathway involved in Hirschsprung's disease.

Tang W et al.

Journal of Cellular and Molecular Medicine, 2015

Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease.

Müller CM et al.

Gene, 2014

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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."