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Overview of included studies for PFBC-MYORG:
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.103A>G
c.1060_1062delGAC
c.1078delT
c.1118C>A
c.1233delC
c.1270_1277dupCGCTGGTG
c.1300G>C
c.1321C>G
c.1328G>A
c.1333C>T
c.1394dupG
c.1427C>A
c.1431C>A
c.1487C>T
c.1511G>C
c.1530delG
c.1538_1540delCCT
c.1634G>A
c.176G>A
c.1831C>T
c.1865T>C
c.191G>A
c.1967T>C
c.2038G>A
c.2087_2088delTG
c.225G>A
c.325C>T
c.337_348dup
c.338T>G
c.373_394delinsG
c.428_442delTGCACTTCTTCATCC
c.607C>T
c.679C>G
c.687G>T
c.695C>T
c.706_708dupGCC
c.747G>C
c.782G>T
c.782_783GC>TT
c.854_855dupTG
c.893G>C
c.940C>T
Country
Brazil
Canada
China
Italy
Turkey
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Peng, 2019
Case report/Case series
1
n.a.
0%
n.a.
p.Gln445*
: hom
Yao, 2018
Family study
6
A
83%
n.a.
p.Trp75*
: hom
p.Met35Val
+
p.Trp443*
: comp. het.
p.Arg441Gly
+
p.Trp75*
: comp. het.
p.Ser232Leu
: hom
p.Arg261Leu
Show more (+2)
+
p.Gln203*
: comp. het.
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Feb. 11, 2020. Version: 3.5.91
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