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Overview of included studies for DYT/PARK-SLC6A3:
Filter for
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Yildiz, 2017 Case report/Case series 2 n.a. 100% 0(+/-0) c.418+3800_653+3058del: hom
p.Gly386Arg: hom
Ng, 2014 Other/Mixed 6 n.a. 83% 6(+/-6) p.Ala314Val: hom
+ c.287-5_287-2delCACAinsAAC: comp. het.
p.Tyr470Ser: hom
p.Arg85Leu: het
p.Arg445Cys: n.a.
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Kurian, 2011 Case report/Case series 6 n.a. 17% 0(+/-0) p.Gly500Glufs*13: hom
+ p.Gln439*
+ p.Pro529Leu: comp. het.
p.Leu224Pro: hom
p.Arg521Trp: hom
c.1156+5delG: hom
c.1031+1G>A: hom
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