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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCC8

Variant:p.Q166*

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ABCC8

NM_000352.6:p.Q166*

hg38:chr11:17463521 G>A

Associated Papers

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

Bellanné-Chantelot C et al.

Journal of Medical Genetics, 2010

20685672 (PubMed )

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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."