Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.A226fs
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PHOX2B

NM_003924.4:p.A226fs

Associated Papers

A Novel c.676_677insG PHOX2B Mutation in Congenital Central Hypoventilation Syndrome.

Ye G et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2019

Molecular pathogenesis of peripheral neuroblastic tumors.

Janoueix-Lerosey I et al.

Oncogene, 2010

Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.

Raabe EH et al.

Oncogene, 2008

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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."