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Overview of included studies for DYT/PARK-SLC30A10:
Filter for
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Zaki, 2018 Case report/Case series 10 n.a. 60% 2(+/-3) c.958+1G>C: hom
p.Asp40Ala: hom
p.Ser41del: hom
p.Tyr30*: hom
p.Ile260del: hom
p.Leu26Pro: hom
Show more (+3)
Gulab, 2018 Case report/Case series 1 n.a. 100% 4 p.Gly120Asp: hom
Quadri, 2012 Family study 4 C 100% 30(+/-26) p.Gln412Argfs*26: hom
p.Phe167Ser: hom
p.Pro170Leufs*22: hom