Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.L272F
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PRKN

NM_004562.3:p.L272F

Associated Papers

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

Pondrelli F et al.

Orphanet Journal of Rare Diseases, 2023

37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB1_EPM2A

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease.

Fan K et al.

Parkinson's Disease, 2019

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