Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.G197D
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PHOX2B

NM_003924.4:p.G197D

Associated Papers

Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Ritenour LE et al.

Cell and Tissue Research, 2018

Retinoblastoma and Neuroblastoma Predisposition and Surveillance.

Kamihara J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.

Heide S et al.

Pediatric Blood & Cancer, 2016

A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.

Amimoto Y et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2014

[Congenital central hypoventilation syndrome: paradigm shifts and future prospects].

Hayasaka K et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2014

Molecular pathogenesis of peripheral neuroblastic tumors.

Janoueix-Lerosey I et al.

Oncogene, 2010

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Trochet D et al.

Human Mutation, 2009

Rare occurrence of PHOX2b mutations in sporadic neuroblastomas.

Serra A et al.

Journal of Pediatric Hematology/oncology, 2008

PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.

McConville C 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."