Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.T104A
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KCNQ1

NM_000218.3:p.T104A

Associated Papers

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM3_ESM.xlsx › SpliceAI

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Cipriani V et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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