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Overview of included studies for PARK-Parkin:
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carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
De Rosa, 2017 Other/Mixed 4 C 75% 33(+/-11) p.Cys253Tyr
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(7+1_8-1)_(171+1_172-1)del
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Morais, 2016 Mutational screen 39 C n.a. 30(+/-11) p.Arg275Trp: hom
p.Arg42Pro: hom
p.Arg42Pro
+ c.8-51491_172-56018del: comp. het.
p.Arg275Trp
+ c.413-16409_534+27042delinsATGCCTGTAA: comp. het.
c.413-10504_534+408delins20
+ p.Arg366Gln: comp. het.
c.1084-3859_1167+1618del: hom
c.413-3460_534+30928del: hom
c.413-27055_534+20428del: hom
c.171+67708_734+58232delins28: hom
c.413-18966_871+72957delinsA: hom
c.534+457_734+41025del: hom
p.Asn52Metfs*29: hom
c.8-23204_172-3140del
+ p.Asn52Metfs*29: comp. het.
c.172-11910_413-22473delinsAT: comp. het.
c.412+25822_535-71707delinsTGA: comp. het.
c.172-16570_734+51279del: comp. het.
c.412+2768_734+92226del: comp. het.
c.735-21670_1083+48265delinsATG: comp. het.
p.Glu344Serfs*91
+ c.1286-3C>G: comp. het.
p.Leu358Argfs*77: hom
p.Thr415Asn
Show more (+18) + c.172-52958_734+8943del: comp. het.
Anderson-Mooney, 2016 Case report/Case series 2 n.a. 0% n.a. p.Cys253Tyr
+ p.Arg275Trp: comp. het.
Genç, 2016 Case report/Case series 1 B 0% 10 c.(7+1_8-1)_(618+1_619-1)del
+ p.Cys253Tyr: comp. het.
Oczkowska, 2015 Mutational screen 1 n.a. n.a. n.a. p.Glu310Asp
+ p.Arg275Trp: comp. het.
Al-Mubarak, 2015 Mutational screen 7 n.a. 71% 34(+/-12) p.Gln178*: hom
c.171+50347_413-21490del
+ p.Thr240Met: comp. het.
c.172-70365_413-16061del: hom
c.735-74079_871+19735del: hom
c.171+53980_534+4116del: hom
Show more (+2)
Guo, 2015 Mutational screen 7 A n.a. n.a. c.(1285+1_1286-1)_(*2679_?)del
+ c.(1167+1_1168-1)_(1285+1_1286-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(7+1_8-1)_(534+1_535-1)del
+ c.(534+1_535-1)_(734+1_735-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(618+1_619-1)del
+ c.(618+1_619-1)_(871+1_872-1)del: comp. het.
c.(7+1_8-1)_(618+1_619-1)del
Show more (+4) + c.(?_-103-1)_(7+1_8-1)del: comp. het.
Tijero, 2015 Mutational screen 14 n.a. 50% n.a. p.Gln34Argfs*5
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
p.Asp18Valfs*26
+ c.(?_-103-1)_(7+1_8-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: comp. het.
p.Asn52Metfs*29: hom
p.Cys352Tyr: het
Show more (+2)
Fiala, 2014 Mutational screen 1 n.a. n.a. n.a. c.(412+1_413-1)_(534+1_535-1)del: hom
c.(7+1_8-1)_(412+1_413-1)del: het
Chu, 2014 Mutational screen 8 A 38% 23(+/-14) p.Leu226Phefs*8
+ p.Gly284Arg: comp. het.
c.(1083+1_1084-1)_(1167+1_1168-1)del: hom
c.(1167+1_1168-1)_(1285+1_1286-1)del: hom
c.(7+1_8-1)_(171+1_172-1)del
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ c.(?_-103-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(734+1_735-1)_(1167+1_1168-1)del
+ c.(871+1_872-1)_(1167+1_1168-1)del: comp. het.
p.Gln34Argfs*5
Show more (+5) + c.(734+1_735-1)_(871+1_872-1)dup: comp. het.