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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PREPL

Variant:p.P200L

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PREPL

NM_001171613.2:p.P200L

hg38:chr2:44339250 G>A

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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