Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.G731del1
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RET

NM_020975.6:p.G731del1

Associated Papers

Transcriptomics of Hirschsprung disease patient-derived enteric neural crest cells reveals a role for oxidative phosphorylation.

Li Z et al.

Nature Communications, 2023

Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.

Lai FP et al.

Gastroenterology, 2017

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

So MT et al.

Plos One, 2011

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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."