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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHOX2B

Variant:p.Q38_Y44delFs

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PHOX2B

NM_003924.4:p.Q38_Y44delFs

hg38:chr4:41748479 ATACTGGAAGCCACTGGCCTG>A

Associated Papers

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.

Sánchez-Mejías A et al.

Journal of Molecular Medicine (berlin, Germany), 2010

20130826 (PubMed )

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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."