Mikó, Ágnes <br/><br/>
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.  [electronic resource] 

 -  Human mutation  12 2018 
 - 1854-1860 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23660  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Motifs<br/>Gene Frequency<br/>Genetic Predisposition to Disease<br/>Glomerulosclerosis, Focal Segmental--genetics<br/>Humans<br/>Intracellular Signaling Peptides and Proteins--chemistry<br/>Membrane Proteins--chemistry<br/>Nephrotic Syndrome--genetics<br/>Polymorphism, Single Nucleotide<br/>Protein Conformation<br/>Protein Multimerization<br/>Risk Assessment