Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.Y14Y
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PHOX2B

NM_003924.4:p.Y14Y

Associated Papers

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

Cain JT et al.

American Journal of Medical Genetics. Part A, 2017

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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."