Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Hayashida, 2021 Mutational screen 3 A n.a. n.a. p.Tyr29Argfs*71: hom
p.Glu113Lysfs*45: hom
p.Gln115Thrfs*27: hom
Smaili, 2021 Mutational screen 3 n.a. 33% 39(+/-10) p.Gln456*: hom
Tan, 2020 Mutational screen 5 A 60% 32(+/-10) p.Leu347Pro: hom
Chen, 2020 Mutational screen 1 A 100% 19 p.Asn521Thrfs*40: hom
Li, 2020 Mutational screen 1 A 0% 15 p.Arg492*
+ p.Leu485_Arg497del: comp. het.
Tan, 2019 Mutational screen 2 O n.a. 40(+/-7) p.Trp90*
+ c.(?_-94)_(387+1_388-1)del: comp. het.
c.(959+1_960-1)_(1123+1_1124-1)del: hom
Wang, 2018 Family study 1 A 100% 28 p.Lys520Argfs*3: hom
Russ, 2018 Other/Mixed 1 n.a. 100% 36 p.Gln456*: hom
Schormair, 2018 Mutational screen 1 C 0% 20 p.Arg492*: hom
Taghavi, 2018 Mutational screen 6 n.a. 33% 28(+/-9) p.Arg246*: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95
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