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  • Volume 53, Issue 9
  • A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

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Genotype-phenotype correlations
Short report
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

 

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May 2020555525
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Aug 202049445
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Oct 2020686113
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Dec 2020706010
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Feb 2021565012
Mar 2021484810
Apr 202152465
May 2021423710
Jun 2021646413
Jul 2021333111
Aug 2021636318
Sep 2021747221
Oct 2021938524
Nov 2021414024
Dec 2021726612
Jan 2022857221
Feb 202210110020
Mar 2022716019
Apr 2022515210
May 2022898423
Jun 2022878211
Jul 2022564612
Aug 2022978819
Sep 2022878137
Oct 2022686311
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Feb 202368669
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Aug 202313812311
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Dec 2023736115
Jan 2024262810
Feb 2024605923
Mar 20247067105
Total827170341690