Scheps, Karen G <br/><br/>
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.  [electronic resource] 

 -  Human mutation  01 2020 
 - 81-102 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23925  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Substitution<br/>Computational Biology--methods<br/>Databases, Genetic<br/>Genetic Variation<br/>Genotype<br/>Hemoglobins--chemistry<br/>Humans<br/>Loss of Function Mutation<br/>Mutation<br/>Open Reading Frames<br/>Phenotype<br/>Sensitivity and Specificity<br/>alpha-Globins--chemistry<br/>beta-Globins--chemistry