Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.I557_T558Splc
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ABCC8

NM_000352.6:p.I557_T558Splc

Associated Papers

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism

Razzaghy-Azar M et al.

Journal of Clinical Research in Pediatric Endocrinology, 2022

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf
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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."