Overview of included studies for PARK-PINK1:
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carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Norman, 2017Family studynone1Dn.g.29p.Ala217Asp: hom
Taghavi, 2017Mutational screennone6n.g.n.g.28 (+/-9)p.Arg246*: hom
Spataro, 2017Mutational screennone1Cn.g.40p.Trp90*: hom
Ben El Haj, 2016Family studynone1n.g.n.g.54p.Leu539Phe: hom
Halder, 2015Mutational screennone1n.g.n.g.31p.Gln267*: hom
Al-Mubarak, 2015Mutational screennone3n.g.n.g.50 (+/-17)p.Thr313Met: hom
p.Gly409Arg: hom
Steele, 2015Mutational screennone3On.g.50 (+/-17)p.Leu347Pro: hom
Siuda, 2014Family studynone2Cn.g.22 (+/-8)p.Gln456*: hom
Monroy-Jaramillo, 2014Mutational screen<459On.g.30 (+/-8)c.(?_-94)_(387+1_388-1)del: hom
c.(387+1_388-1)_(675+1_676-1)del + c.(776+1_777-1)_(1123+1_1124-1)del: comp. het.
c.(387+1_388-1)_(675+1_676-1)dup + c.(959+1_960-1)_(1123+1_1124-1)dup: comp. het.
p.Tyr444Metfs*39: hom
p.Cys92Alafs*15: hom

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Koziorowski, 2013Mutational screen<451Cn.g.n.g.p.Ile368Asn: hom