Varaico: Literature-Extracted Genetic Variants

Gene:MNX1
Variant:p.F248L
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MNX1

NM_005515.4:p.F248L

Associated Papers

MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra-pancreatic congenital defects presenting in severe diabetic ketoacidosis.

Aly HH et al.

Journal of Diabetes Investigation, 2023

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.

Dworschak GC et al.

Orphanet Journal of Rare Diseases, 2021

Functional Defects From Endocrine Disease-Associated Mutations in HLXB9 and Its Interacting Partner, NONO.

Kharade SS et al.

Endocrinology, 2018

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

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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."