Overview of included studies for PARK-PINK1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Sun, 2023 Mutational screen 5 A 60% 29(+/-12) p.Arg492*: hom
p.Val59Serfs*48: hom
p.Arg501*
+ p.Arg246*: comp. het.
p.Asn521Thrfs*40: hom
p.Val59Serfs*48: comp. het.
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Bakhit, 2023 Other/Mixed 13 n.a. 62% 27(+/-8) p.Gln533Profs*29: hom
p.Arg483Serfs*7: hom
p.Gln456*: hom
Caritativo, 2023 Other/Mixed 5 A 60% 40(+/-9) p.Leu347Pro: hom
Soudyab, 2022 Other/Mixed 4 A 75% 40(+/-3) p.Asn223Lysfs*12: hom
p.Gly408Alafs*6: hom
c.1124-2A>T: hom
p.Gly163Valfs*22: hom
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Abu, 2022 Mutational screen 3 C 0% 37(+/-12) p.Asp297Metfs*22: hom
Morales-Briceno, 2022 Case report/Case series 4 n.a. 100% 34(+/-11) p.Leu347Pro: hom
Kukkle, 2022 Mutational screen 1 n.a. 0% 26 c.959+1G>A: hom
Patel, 2021 Mutational screen 5 n.a. 40% 33(+/-10) p.Leu347Pro: hom
Milanowski, 2021 Mutational screen 3 C n.a. n.a. p.Ile368Asn: hom
p.Ala168Pro: hom
p.Gln456*: hom
Li, 2021 Case report/Case series 1 A 0% 15 c.1488+1G>A
+ p.Arg492*: comp. het.
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95