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1.
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Nephron Clin Pract
; 120(3): c139-46, 2012.
Article
in English
| MEDLINE | ID: mdl-22584503
2.
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Nat Commun
; 6: 8666, 2015 Oct 21.
Article
in English
| MEDLINE | ID: mdl-26487268
3.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Nat Genet
; 45(8): 951-6, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23793029
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