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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNJ6

Variant:p.R238*

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KCNJ6

NM_002240.5:p.R238*

hg38:chr21:37714445 T>A

Associated Papers

Clinical and genetic characteristics of XIAP deficiency in Japan.

Yang X et al.

Journal of Clinical Immunology, 2012

22228567 (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."