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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHOX2B

Variant:p.R149C

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PHOX2B

NM_003924.4:p.R149C

hg38:chr4:41746307 G>A

Associated Papers

PHOX2B -associated Congenital Central Hypoventilation Syndrome Revealed Upon Treatment With Dinutuximab-beta.

Chupin A et al.

Journal of Pediatric Hematology/oncology, 2025

39961018 (PubMed )

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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."