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Overview of included studies for PFBC-MYORG:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Peng, 2019 Case report/Case series 1 n.a. 0% 40 p.Gln445*: hom
Yao, 2018 Family study 6 A 83% n.a. p.Trp75*: hom
p.Trp443*
+ p.Met35Val: comp. het.
p.Arg441Gly
+ p.Trp75*: comp. het.
p.Ser232Leu: hom
p.Gln203*
Show more (+2) + p.Arg261Leu: comp. het.