Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.A13P
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PHOX2B

NM_003924.4:p.A13P

Associated Papers

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.

Garcia-Barceló M et al.

Clinical Chemistry, 2004

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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."