Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.Y78*
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PHOX2B

NM_003924.4:p.Y78*

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_12

Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.

Lombardo RC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.

Katwa U et al.

American Journal of Medical Genetics. Part A, 2018

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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."