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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAPSN

Variant:p.N374insFs

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RAPSN

NM_005055.5:p.N374insFs

hg38:chr11:47438778 T>TAGGC

Associated Papers

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.

Akçay AA et al.

Clinical Genetics, 2025

41451794 (PubMed )

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