Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.Q143_V144Splc
Back to variants list

PHOX2B

NM_003924.4:p.Q143_V144Splc

Associated Papers

Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel PHOX2B gene variant.

Anand N et al.

Bmj Case Reports, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."