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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNJ11

Variant:p.K185delFs

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KCNJ11

NM_000525.4:p.K185delFs

hg38:chr11:17387537 CT>C

Associated Papers

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Kapoor RR et al.

European Journal of Endocrinology, 2013

23345197 (PubMed )

Supplement: supp_EJE-12-0673_EJE_120673_Suppl_Table.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."