2 Matching Annotations
- Jul 2018
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europepmc.org europepmc.org
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On 2016 May 30, Heidi Schulz commented:
According to HGVS guidelines, the p.Q238L mutation described as c.713del15 in the paper, should be named c.713_714+13del. The p.A357V variant mentioned in the paper has a MAF=0.02 in ExAc East Asians and has not been reported in patients with Best disease in the papers cited.
This comment, imported by Hypothesis from PubMed Commons, is licensed under CC BY.
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- Feb 2018
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europepmc.org europepmc.org
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On 2016 May 30, Heidi Schulz commented:
According to HGVS guidelines, the p.Q238L mutation described as c.713del15 in the paper, should be named c.713_714+13del. The p.A357V variant mentioned in the paper has a MAF=0.02 in ExAc East Asians and has not been reported in patients with Best disease in the papers cited.
This comment, imported by Hypothesis from PubMed Commons, is licensed under CC BY.
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