Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G546R
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KCNH2

NM_000238.4:p.G546R

Associated Papers

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.

Tsurusaki Y et al.

Clinical Genetics, 2014

Mutations within the S4-S5 linker alter voltage sensor constraints in hERG K+ channels.

Van Slyke AC et al.

Biophysical Journal, 2010

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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."