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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNJ6

Variant:p.G154C

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KCNJ6

NM_002240.5:p.G154C

hg38:chr21:37714697 C>A

Associated Papers

Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.

van Midden VM et al.

Clinical Genetics, 2023

36071510 (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."