Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.L319del1
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HNF4A

NM_175914.5:p.L319del1

Associated Papers

Whole-exome sequencing of kidney transplant recipients and donors: insights into end-stage renal disease and post-transplant genetic risk.

Bayanova M et al.

Bmc Nephrology, 2025

Diazoxide and Continuous Glucose Monitoring as Treatment in a Neonate with Hyperinsulinemic Hypoglycemia due to HNF4A Mutation.

Sotiriou G et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K et al.

Human Mutation, 2013

Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies.

Carette C et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2010

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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."