Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.E73*
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MYCN

NM_005378.6:p.E73*

Associated Papers

A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development.

Yu X et al.

Neuroscience Bulletin, 2018

Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.

Blaumeiser B et al.

American Journal of Medical Genetics. Part A, 2008

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Marcelis CL et al.

Human Mutation, 2008

Expanding the clinical spectrum of MYCN-related Feingold syndrome.

Tészás A et al.

American Journal of Medical Genetics. Part A, 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."