Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.L85_F86delFs
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PHOX2B

NM_003924.4:p.L85_F86delFs

Associated Papers

Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.

Mei M et al.

Translational Pediatrics, 2021

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Paglietti MG et al.

Italian Journal of Pediatrics, 2019

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

Heide S et al.

Pediatric Blood & Cancer, 2016

[Congenital central hypoventilation syndrome, report of three cases].

Wang Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

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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."