Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.E160V
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KCNQ1

NM_000218.3:p.E160V

Associated Papers

Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Phul S et al.

Plos Computational Biology, 2022

35442947 (PubMed )
Supplement: pcbi.1010038.s010.xlsx › Missense_Mutations

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Exploiting ion channel structure to assess rare variant pathogenicity.

Kroncke BM et al.

Heart Rhythm, 2018

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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."