Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.Y179C
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ABCC8

NM_000352.6:p.Y179C

Associated Papers

Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.

Cheng M et al.

Pediatric Diabetes, 2024

40302972 (PubMed )
Supplement: 3961900.f1.docx

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.

Hopkins JJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Efficacy and safety of octreotide treatment for diazoxide-unresponsive congenital hyperinsulinism in China.

Cao B et al.

Pediatric Investigation, 2020

Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.

Xu ZD et al.

Endocrine Connections, 2018

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

Bellanné-Chantelot C et al.

Journal of Medical Genetics, 2010

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.

Damaj L et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."