Items: 176 - 200 from 899
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Source
Family
Source ID
Gene
Nucl. change
Protein change
TOM
Add. mut.
Sex
Age group
Age
RD
OBE
PD
CI
REP
REN
HRT
LIV
DD
Ethnicity
Notes
Shaheen et al. 2016 7GBT F-15-22 BBS2 c.1015C>T/c.1015C>T p.Arg339*/p.Arg339* cLOF/cLOF 1 1 1 1 Saudi Arabian
Shaheen et al. 2016 7GBT F-15-21 BBS2 c.1015C>T/c.1015C>T p.Arg339*/p.Arg339* cLOF/cLOF 1 1 1 Saudi Arabian
Bennouna-Greene et al. 2011 BJT1 01.04.05 BBS12 p.Arg355*/p.Arg355* cLOF/cLOF M 20-39 23 0 1 1 French
Iurian et al. 2015 X6V2 C.V.N BBS12 c.1063C>T/c.1063C>T p.Arg355*/p.Arg355* cLOF/cLOF M 0-9 5 month 0 1 1 1 1 1 Romanian
Deveault et al. 2011 GZYP 126 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
[]
 F 0-9 4 1 1 1 1 Denea
Deveault et al. 2011 GZYP 128 BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 10 0 0 1 1 1 Denea
Billingsley et al. 2010 YAGJ 126** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS
[]
 F 0-9 4 1 1 1 1 Canadian Native Indian
Billingsley et al. 2010 YAGJ 128** BBS12 p.Arg355Gln/p.Arg355Gln MS/MS M 10-19 16 1 1 0 1 Canadian Native Indian
Schaefer et al. 2011(a) ILMO II.30 BBS16 c.1120C>T/c.1120C>T p.Arg374*/p.Arg374* cLOF/cLOF F 0-9 6 1 1 0 1 1 French
Suzuki et al. 2016 UFCD 19 BBS1 c.1139G>A/c.1139G>A p.Arg380Gln/p.Arg380Gln MS/MS 1 0 1 0 0 1 Omani
Fattahi et al. 2014 KQKK 35201 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 1 1 1 0 1 1 Iranian
Fattahi et al. 2014 LJ5D 37709 BBS12 c.1156_1157CG>TA/c.1156_1157CG>TA p.Arg386*/p.Arg386* cLOF/cLOF 0 1 1 0 1 Iranian
Abu-Safieh et al. 2012 H4C9 BBS-F024-A BBS2 c.1207C>T/c.1207C>T p.Arg403Cys/p.Arg403Cys MS/MS 1 1 1 1 1 0 0 0 Saudi Arabian
Deveault et al. 2011 4P7U 73 BBS2 p.Arg413*/p.Arg413* cLOF/cLOF
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 M 0-9 3 1 1 1 1 1 1 1 Arabica
Harville et al. 2010 G0X5 A2012-II1 BBS2 c.1237C>T/c.1237C>T p.Arg413*/p.Arg413* cLOF/cLOF 1 1 1 0 0 Pakistani
Shaheen et al. 2016 DNA0 F-14-20 BBS1 c.831-3C>G/c.1285C>T p.Arg429*/p.Arg429* cLOF/cLOF 1 1 1 1 Saudi Arabian
Janssen et al. 2011 CAEM AR839 (A2874) -4 BBS2 c.1438C>T/c.1237C>T p.Arg480*/p.Arg413* cLOF/cLOF 1 1 1 0 0 1 1 N. European
Deveault et al. 2011 0ZCC 8 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 21 1 0 1 1 0 0 1 1 Polish
Schaefer et al. 2011(b) ZT7M VII.26 BBS10 c.145C>T/c.145C>T p.Arg49Trp/p.Arg49Trp MS/MS F 1 1 1 1 1 French
Bennouna-Greene et al. 2011 NK6A 1.10.19 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS M 20-39 34 1 1 1 French
Hjortshoj et al. 2010 VNHI P41 BBS10 p.Arg49Trp/p.Arg49Trp MS/MS
[]
 M 0-9 7 1 1 1 1 1 1 1 Scandinavian
Scheidecker et al. 2015 NG8A Case5 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 40+ 54 1 1 1 0 1 0 French
Scheidecker et al. 2015 NG8A Case6 BBS10 p.Arg49Trp/p.Gln139Pro MS/MS M 20-39 36 1 1 1 0 1 French
Bennouna-Greene et al. 2011 2FSK 04.01.01 BBS10 p.Arg49Trp/p.Leu414Ser MS/MS M 10-19 19 1 0 0 French
Suzuki et al. 2016 JX2N 25 BBS14 c.1645C>T/c.6012-12T>A p.Arg549*/splice cLOF/cLOF 1 0 1 1 0 1 Japanese
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