Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.A241_A247delFs
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PHOX2B

NM_003924.4:p.A241_A247delFs

Associated Papers

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.

Di Lascio S et al.

Human Mutation, 2018

Rare occurrence of PHOX2b mutations in sporadic neuroblastomas.

Serra A et al.

Journal of Pediatric Hematology/oncology, 2008

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."