Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.I588F
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KCNQ1

NM_000218.3:p.I588F

Associated Papers

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

Vyas B et al.

American Journal of Medical Genetics. Part A, 2016

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Vyas B et al.

Indian Pacing and Electrophysiology Journal, 0

Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.

Zafari Z et al.

Journal of Electrocardiology, 0

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