Article

Homozygous and compound heterozygous rare variants in VPS13C contribute to Lewy body diseases

2020-05-22

Abstract excerpt

<title>Abstract</title> <p>Background Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically overlapping disorders. They are included in the Lewy body disease (LBD) continuum characterized by α-synuclein-positive Lewy body pathology in neurons. Homozygous PTC mutations in Vacuolar Protein Sorting 13 homolog C gene (<italic>VPS13C</italic>) are associated wit...

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Literature Corpus work: 50eac0e0-610c-5ecb-82a8-60ee1d4b7876
DOI: 10.21203/rs.3.rs-29975/v1

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