Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.N203_P206delFs
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PHOX2B

NM_003924.4:p.N203_P206delFs

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

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Sasaki A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2019

Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Weese-Mayer DE et al.

Pediatric Research, 2017

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.

Shimokaze T et al.

Journal of Human Genetics, 2015

[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."