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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHOX2A

Variant:p.L52L

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PHOX2A

NM_005169.4:p.L52L

hg38:chr11:72243849 G>A

Associated Papers

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.

Borghini S et al.

European Journal of Human Genetics : Ejhg, 2007

17505528 (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."