Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.L267F
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HNF4A

NM_175914.5:p.L267F

Associated Papers

Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants.

Huerta-Saenz L et al.

International Journal of Pediatric Endocrinology, 2018

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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."