TY  - GEN
AU  - Mikó,Ágnes
AU  - K Menyhárd,Dóra
AU  - Kaposi,Ambrus
AU  - Antignac,Corinne
AU  - Tory,Kálmán
TI  - The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment
SN  - 1098-1004
PY  - 2019///1007
KW  - Amino Acid Motifs
KW  - Gene Frequency
KW  - Genetic Predisposition to Disease
KW  - Glomerulosclerosis, Focal Segmental
KW  - genetics
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - chemistry
KW  - Membrane Proteins
KW  - Nephrotic Syndrome
KW  - Polymorphism, Single Nucleotide
KW  - Protein Conformation
KW  - Protein Multimerization
KW  - Risk Assessment
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1002/humu.23660
ER  -