Varaico: Literature-Extracted Genetic Variants

Gene:MYCN
Variant:p.R393H
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MYCN

NM_005378.6:p.R393H

Associated Papers

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.

Wallen ZD et al.

Frontiers in Genetics, 2025

40385986 (PubMed )
Supplement: Supplementaryfile1.xlsx › Supplementary_Table_3

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

Hao S et al.

Cancer Medicine, 2023

37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Somatic_variants

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Mann N et al.

Journal of the American Society of Nephrology : Jasn, 2019

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Cognet M et al.

European Journal of Human Genetics : Ejhg, 2011

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."