The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. [electronic resource]
Producer: 20191007Description: 1854-1860 p. digitalISSN:- 1098-1004
- Amino Acid Motifs
- Gene Frequency
- Genetic Predisposition to Disease
- Glomerulosclerosis, Focal Segmental -- genetics
- Humans
- Intracellular Signaling Peptides and Proteins -- chemistry
- Membrane Proteins -- chemistry
- Nephrotic Syndrome -- genetics
- Polymorphism, Single Nucleotide
- Protein Conformation
- Protein Multimerization
- Risk Assessment
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
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