Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.S28*
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PHOX2B

NM_003924.4:p.S28*

Associated Papers

A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability.

Pelleter M et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2024

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