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Overview of included studies for PFBC-SLC20A2:
Click here for summary of patients' characteristics
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.(-265+1_-264+1)_(289+1_290-1)del
c.(430+1_431-1)_(516+1_517-1)del
c.(430+1_431-1)_(613+1_614-1)del
c.(613+1_614-1)_(1794+1_1795-1)del
c.1086delC
c.1101_1102delCG
c.1158C>A
c.1187dupT
c.1207C>T
c.1301C>G
c.1399C>T
c.1426G>T
c.1470_1478delGCAGGTCCT
c.1483G>A
c.1492G>A
c.149T>G
c.1507G>A
c.1520_1521delTG
c.1523G>A
c.1524-2A>G
c.1618G>A
c.1703C>T
c.1753G>A
c.1755_1768delCTCCAACATCGGGC
c.1790G>A
c.1794+1G>C
c.1802C>G
c.1802C>T
c.1822_1848delATCCGCTCCCGCAAGGCTGTGGACTGG
c.1828_1831delTCCC
c.1848G>A
c.185T>C
c.1871T>A
c.1876_1887dupTGGTTCGTGACC
c.188G>A
c.1909A>C
c.212G>A
c.21delG
c.220dupT
c.248C>T
c.260_261delTC
c.269G>T
c.289+5G>A
c.323T>C
c.338C>G
c.358G>C
c.362C>G
c.382del
c.509delT
c.514A>T
c.516+1G>A
c.541C>T
c.551C>G
c.551C>T
c.581A>G
c.583_584delGT
c.730+1G>T
c.739C>T
c.852delC
c.935-1G>A
Country
Brazil
China
France
Italy
Japan
Norway
Russia
Sweden
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Paucar, 2017
Case report/Case series
1
C
0%
42
p.Arg467*
: het
Kumar, 2017
Case report/Case series
1
n.a.
100%
74
p.Gly503Ser
: het
Takeuchi, 2016
Other/Mixed
1
A
100%
13
p.Trp616*
: het
Grütz, 2016
Mutational screen
2
C
50%
n.a.
p.Val205Glyfs*65
: het
David, 2016
Mutational screen
6
C
67%
46(+/-19)
c.(-265+1_-264+1)_(289+1_290-1)del
: het
p.Val144Glyfs*85
: het
p.Ala145_Val205del
: het
Oliveira, 2016
Case report/Case series
1
n.a.
100%
37
p.Ala585Thr
: het
Røsby, 2016
Family study
1
C
0%
30
p.Ile74Tyrfs*3
: het
Liu, 2016
Family study
1
A
100%
22
p.Cys597Tyr
: het
Kimura, 2016
Family study
2
A
100%
52
p.Ser637Arg
: het
Carecchio, 2015
Case report/Case series
1
C
100%
53
p.Ser113*
: het
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Dec. 2, 2020. Version: 3.5.95
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