Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q530_Q531Splc
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KCNQ1

NM_000218.3:p.Q530_Q531Splc

Associated Papers

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Urtis M et al.

Genes, 2025

41300778 (PubMed )
Supplement: genes-16-01325-s001.zip › genes-3897287-supplementary.pdf

Long QT and Hearing Loss in High-Risk Infants Prospective Study Registry.

Fenrich AL et al.

Pediatric Cardiology, 2022

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Lacaze P et al.

Npj Genomic Medicine, 2021

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

Chang RK et al.

The Journal of Pediatrics, 2014

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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."