Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.K821Q
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RET

NM_020975.6:p.K821Q

Associated Papers

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

Lantieri F et al.

Orphanet Journal of Rare Diseases, 2019

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

Martucciello G et al.

Der Pathologe, 2007

Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles.

Lantieri F et al.

Annals of Human Genetics, 2006

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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."