Overview of included studies for PFBC-SLC20A2:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Paucar, 2017Case report / Case seriesnone1n.g.n.g.42p.Arg467*: het
Pasanen, 2017Family studynone2n.g.n.g.29c.(-370-519816)_(-265-58243)del: het
Takeuchi, 2016Other / Mixed>211An.g.13p.Trp616*: het
Grütz, 2016Mutational screennone2Cn.g.n.g.p.Val205Glyfs*65: het
David, 2016Mutational screennone5Cn.g.41 (+/-17)c.(-265+1_-264+1)_(289+1_290-1)del: het
c.(430+1_431-1)_(516-1_517+1)del: het
Oliveira, 2016Case report / Case seriesnone1n.g.n.g.37p.Ala585Thr: het
Røsby, 2016Family studynone1n.g.n.g.30p.Ile74Asn: het
Liu, 2016Family studynone1An.g.22p.Cys597Tyr: het
Kimura, 2016Family studynone2An.g.52p.Ser637Arg: het
Gagliardi, 2015Family studynone2Cn.g.66 (+/-25)p.Leu7Phefs*10: het