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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: P241L
cDNA Position: 722 c→t (exon 3)
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Disease | Genetics | Frequency | Reference |
Neutral polymorphism | <1 % in control populations | (Luoma et al., 2007) PubMed |
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Parkinsonism | Found in a Chinese population with Parkinsonism at an allelic frequency of 0.326 | 344 Chinese parkinson patients and 144 controls | (Gui et al., 2012) PubMed |