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Sequence chromatogram of the c.3744_3752del mutation on the <i>SCN1A</i> gene in the proband and her family members

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NIAID Data Ecosystem2026-05-01 收录
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In family 2, the proband carried one variant in the SCN1A gene (c.3744_3752del) associated with twitching, whereas it was not detected in parents (Figure 1B).

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2023-09-09
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