Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.W248Fs
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KCNQ1

NM_000218.3:p.W248Fs

Associated Papers

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.

Pan X et al.

Channels (austin, Tex.), 2025

41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf
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