Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.A247_A252ins2
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PHOX2B

NM_003924.4:p.A247_A252ins2

Associated Papers

Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Rojnueangnit K et al.

Clinical Case Reports, 2018

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.

Serra A et al.

Annals of Human Genetics, 2010

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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."