Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.S795R
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RET

NM_020975.6:p.S795R

Associated Papers

Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.

Hyndman BD et al.

Human Mutation, 2013

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].

Martucciello G et al.

Der Pathologe, 2007

Incidence of RET mutations in patients with Hirschsprung's disease.

Sancandi M et al.

Journal of Pediatric Surgery, 2000

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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."