Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.T119delFs
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ABCC8

NM_000352.6:p.T119delFs

Associated Papers

Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism.

Ros-Pérez P et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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."