Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.D267N
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RET

NM_020975.6:p.D267N

Associated Papers

MCAD deficiency in Denmark.

Andresen BS et al.

Molecular Genetics and Metabolism, 2012

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

Martucciello G et al.

Der Pathologe, 2007

A model for GFR alpha 4 function and a potential modifying role in multiple endocrine neoplasia 2.

Vanhorne JB et al.

Oncogene, 2005

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

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.

Fitze G et al.

Lancet (london, England), 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."