Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.*391L
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KCNJ11

NM_000525.4:p.*391L

Associated Papers

KCNJ11 readthrough variant in a patient with congenital hyperinsulinism.

Uehara E et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025

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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."