Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.P290P
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PHOX2B

NM_003924.4:p.P290P

Associated Papers

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Causative and common PHOX2B variants define a broad phenotypic spectrum.

Bachetti T et al.

Clinical Genetics, 2020

An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse).

Lovell BL et al.

Emergency Medicine Journal : Emj, 2010

Rare occurrence of PHOX2b mutations in sporadic neuroblastomas.

Serra A et al.

Journal of Pediatric Hematology/oncology, 2008

Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.

Raabe EH et al.

Oncogene, 2008

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Parodi S et al.

Human Mutation, 2008

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

de Pontual L et al.

European Journal of Cancer (oxford, England : 1990), 2007

Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.

Rand CM et al.

American Journal of Medical Genetics. Part A, 2006

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."