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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLPI

Variant:p.P20L

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SLPI

NM_003064.4:p.P20L

hg38:chr20:45254485 G>A

Associated Papers

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Pajusalu S et al.

Human Mutation, 2024

40225925 (PubMed )

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