Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.A226delFs
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PHOX2B

NM_003924.4:p.A226delFs

Associated Papers

Molecular targeting therapies for neuroblastoma: Progress and challenges.

Zafar A et al.

Medicinal Research Reviews, 2021

Causative and common PHOX2B variants define a broad phenotypic spectrum.

Bachetti T et al.

Clinical Genetics, 2020

Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Ritenour LE et al.

Cell and Tissue Research, 2018

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.

Di Lascio S et al.

Human Mutation, 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

Recent insights into the biology of neuroblastoma.

Schleiermacher G et al.

International Journal of Cancer, 2014

Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma.

Wang W et al.

Oncogene, 2014

Distinct neuroblastoma-associated alterations of PHOX2B impair sympathetic neuronal differentiation in zebrafish models.

Pei D et al.

Plos Genetics, 2013

Neuroblastoma phox2b variants stimulate proliferation and dedifferentiation of immature sympathetic neurons.

Reiff T et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.

Raabe EH et al.

Oncogene, 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

PHOX2B mutations and genetic predisposition to neuroblastoma.

Perri P et al.

Oncogene, 2005

Germline PHOX2B mutation in hereditary neuroblastoma.

Mosse YP et al.

American Journal of Human Genetics, 2004

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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."