Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.D177E
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PHOX2B

NM_003924.4:p.D177E

Associated Papers

A familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.

Omata K et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2025

Identification of the genetic and clinical characteristics of neuroblastomas using genome-wide analysis.

Uryu K et al.

Oncotarget, 2017

29296183 (PubMed )
Supplement: oncotarget-08-107513-s001.pdf
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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."