Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.L269R
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CHRNA1

NM_001039523.3:p.L269R

Associated Papers

Slow-Channel Congenital Myasthenic Syndrome Due to the Novel Variant c.1396G_A in CHRNA1 That Responds Favorably to 3,4-Diaminopyridine: A Case Report.

Finsterer J

Cureus, 2024

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