scholarly journals Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening

2020 ◽  
Author(s):  
Douglas O. S. Faria ◽  
Stijn L. M. Groen ◽  
Marianne Hoogeveen‐Westerveld ◽  
Monica Y. Niño ◽  
Ans T. Ploeg ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Sequence Variants ◽  
Clinical Phenotypes ◽  
Variant Database ◽  
Common Sequence

Interaction of common sequence variants and selected risk factors in determination of HDL cholesterol levels

2010 ◽  
Vol 43 (9) ◽  
pp. 754-758 ◽  
Author(s):  
Hirschfeldova Katerina ◽  
Sedova Michaela ◽  
Vrablik Michal ◽  
Svobodova Helena ◽  
Zvarova Jana ◽  
...  
Keyword(s):  
Risk Factors ◽  
Hdl Cholesterol ◽  
Sequence Variants ◽  
Cholesterol Levels ◽  
Common Sequence

scholarly journals Common sequence variants affect molecular function more than rare variants?

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Yannick Mahlich ◽  
Jonas Reeb ◽  
Maximilian Hecht ◽  
Maria Schelling ◽  
Tjaart Andries Petrus De Beer ◽  
...  
Keyword(s):  
Rare Variants ◽  
Sequence Variants ◽  
Molecular Function ◽  
Common Sequence

scholarly journals Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer

2008 ◽  
Vol 100 (18) ◽  
pp. 1326-1330 ◽  
Author(s):  
Pengyuan Liu ◽  
Haris G. Vikis ◽  
Daolong Wang ◽  
Yan Lu ◽  
Yian Wang ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Familial Aggregation ◽  
Sequence Variants ◽  
Common Sequence

scholarly journals Common Sequence Variants Associated With Coronary Artery Disease Correlate With the Extent of Coronary Atherosclerosis

2015 ◽  
Vol 35 (6) ◽  
pp. 1526-1531 ◽  
Author(s):  
Eythor Bjornsson ◽  
Daniel F. Gudbjartsson ◽  
Anna Helgadottir ◽  
Thorarinn Gudnason ◽  
Tomas Gudbjartsson ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Coronary Atherosclerosis ◽  
Sequence Variants ◽  
Artery Disease ◽  
Common Sequence
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