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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

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

Fig. 2

Association between genotypes and survival (EPM2A, A; NHLRC1, B) and retention of autonomy (EPM2A, C; NHLRC1, D) according to Kaplan–Meier analysis. 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