Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.R394H
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MYCN

NM_005378.6:p.R394H

Associated Papers

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Tedesco MG et al.

American Journal of Medical Genetics. Part A, 2021

Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome.

Lehman VT et al.

American Journal of Medical Genetics. Part A, 2009

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."