Varaico: Literature-Extracted Genetic Variants

Gene:PHOX2B
Variant:p.E139V
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PHOX2B

NM_003924.4:p.E139V

Associated Papers

Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.

Malhotra N et al.

Hormone Research in Paediatrics, 2024

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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."