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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNQ5

Variant:p.T306_I307Splc

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KCNQ5

NM_019842.4:p.T306_I307Splc

hg38:chr6:73077892 G>A

Associated Papers

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.

Krüger J et al.

Ebiomedicine, 2022

36088682 (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."