Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.E289Q
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RET

NM_020975.6:p.E289Q

Associated Papers

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

Martucciello G et al.

Der Pathologe, 2007

Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.

Kjaer S et al.

Human Molecular Genetics, 2003

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Gabriel SB et al.

Nature Genetics, 2002

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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."