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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

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

Fig. 1

Schematic representation of the Lafora disease pathogenic variants in EPM2A and NHLRC1 (A), laforin and malin (B). EPM2A gene contains five exons and NHLRC1 consists of one exon. Laforin contains an amino-terminal carbohydrate binding module (CBM) and a carboxy-terminal dual specificity phosphatase domain (DSP). Malin contains a RING finger domain and six NHL repeats

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172