Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D525fs
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PINK1

NM_032409.3:p.D525fs

Associated Papers

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease.

Wang P et al.

Neuroscience Letters, 2018

Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.

Crosiers D et al.

Journal of Chemical Neuroanatomy, 2011

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
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