Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.A226insFs
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PHOX2B

NM_003924.4:p.A226insFs

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

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

Heide S et al.

Pediatric Blood & Cancer, 2016

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.

Bourdeaut F et al.

European Journal of Human Genetics : Ejhg, 2012

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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."