Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.P202_N203insFs
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PHOX2B

NM_003924.4:p.P202_N203insFs

Associated Papers

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

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Weese-Mayer DE et al.

Pediatric Pulmonology, 2009

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Trochet D et al.

Human Mutation, 2009

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Berry-Kravis EM et al.

American Journal of Respiratory and Critical Care Medicine, 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."