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Overview of included studies for PFBC-SLC20A2:
Click here for summary of patients' characteristics
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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
Hsu, 2013
Family study
13
n.a.
44%
26(+/-24)
p.Ser601Leu
: het
p.Pro568Leu
: het
c.1794+1G>C
: het
p.Ser610Alafs*18
: het
p.Leu170*
: het
p.Lys172*
: het
p.Val195Leufs*62
: het
Show more (+4)
Wang, 2012
Other/Mixed
2
A
0%
38(+/-50)
p.Ser601Trp
: het
p.Ser121Cys
+
p.Ser601Trp
: comp. het.
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