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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data

Fig. 3

Post-hoc analysis comparing survival (A) and probability of retention of autonomy (B) between EPM2A genotypes taken together, NHLRC1 genotype composed by two PT variants (2PT) and the other NHLRC1 genotypes taken together (2MS and MS + PT). Legend: MS, missense pathogenic variants and small in-frame insertions/deletions; PT, nonsense, frameshift, splice site variants, and partial or total gene deletions. MS + PT: genotype composed by one MS variant and one PT variant; 2MS: genotype composed by two MS variants; 2PT: genotype composed by two PT variants

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172