Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.A246_A254ins3
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PHOX2B

NM_003924.4:p.A246_A254ins3

Associated Papers

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Kuil LE et al.

Plos Genetics, 2021

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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."