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Short report
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

 

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Feb 20153114338
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May 20153181227
Jun 20151282639
Jul 20151171816
Aug 2015631313
Sep 20159068
Oct 201555910
Nov 201543108
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Jan 2016651115
Feb 2016541223
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Apr 20168387
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Jun 20164957
Jul 20162979
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Sep 20164669
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Mar 20173374
Apr 201733157
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Jun 201731106
Jul 201756127
Aug 20179362
Sep 201795109
Oct 2017871810
Nov 2017108116
Dec 201710272
Jan 201895814
Feb 201810253
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Apr 2018145115
May 2018154135
Jun 201813081
Jul 201812583
Aug 201814874
Sep 201813044
Oct 2018247117
Nov 201818441
Dec 201814132
Jan 201911572
Feb 201913763
Mar 20198520
Apr 20198444
May 20196066
Jun 20197232
Jul 20194662
Aug 20194533
Sep 20195150
Oct 201960102
Nov 201968125
Dec 20194888
Jan 20208510
Feb 20204784
Mar 202010774
Apr 20204372
May 20205885
Jun 20204743
Jul 20205762
Aug 20203532
Sep 20206860
Oct 20205846
Nov 20206945
Dec 20208065
Jan 202190108
Feb 20218762
Mar 20219885
Apr 20215751
May 20212552
Jun 2021662
Jul 2021643
Aug 2021994
Sep 2021572
Oct 202110541
Nov 20216090
Dec 20219370
Jan 20229494
Feb 20228933
Mar 20228570
Apr 20225132
May 20228440
Total7549753596