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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHOX2B

Variant:p.A242_A243ins6

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PHOX2B

NM_003924.4:p.A242_A243ins6

hg38:chr4:41746026 T>TCGCGGCCGCCGCCGCTGC

Associated Papers

A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.

Kwon KA et al.

Journal of Korean Medical Science, 2010

20676341 (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."