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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PREPL

Variant:p.L586*

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PREPL

NM_001171603.1:p.L586*

hg38:chr2:44323401 A>T

Associated Papers

Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.

Wang T et al.

Pediatric Neurology, 2026

41547082 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."