Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.Q1373*
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ABCC8

NM_001287174.3:p.Q1373*

Associated Papers

Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.

Yavas Abali Z et al.

Endocrine, 2025

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
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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."