Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.R393S
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MYCN

NM_005378.6:p.R393S

Associated Papers

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

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

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

van Bokhoven H et al.

Nature Genetics, 2005

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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."