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September 1, 2017Clinical GeneticsOpen Access

Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease

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Authors

BSBarbara SchormairDKDavid KemlinkBMBrit Mollenhauer

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Schormair et al. (2017) studied this question.

synapsesocial.com/papers/6a2084fde1fa5be4a5f421cfhttps://doi.org/10.1111/cge.13124
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Heterozygous <i>parkin</i> point mutations are as common in control subjects as in Parkinson's patients2006 · 117 citations
  2. 2Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease2010 · 290 citations
  3. 3Exome sequencing in undiagnosed inherited and sporadic ataxias2014 · 142 citations