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A discarded synonymous variant inNPHP3explains nephronophth..:
Olinger, Eric
;
Alawi, Intisar Al
;
Al Riyami, Mohammed S.
...
Human Mutation. 42 (2021) 10 - p. 1221-1228 , 2021
Link:
https://doi.org/10.1002/humu.24251
RT Journal T1
A discarded synonymous variant inNPHP3explains nephronophthisis and congenital hepatic fibrosis in several families
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.24251&Exemplar=1&LAN=DE A1 Olinger, Eric A1 Alawi, Intisar Al A1 Al Riyami, Mohammed S. A1 Salmi, Isa Al A1 Molinari, Elisa A1 Faqeih, Eissa Ali A1 Al‐Hamed, Mohamed H. A1 Barroso‐Gil, Miguel A1 Powell, Laura A1 Al‐Hussaini, Abdulrahman A. A1 Rahim, Khawla A. A1 Almontashiri, Naif A. M. A1 Miles, Colin A1 Shril, Shirlee A1 Hildebrandt, Friedhelm A1 Consortium, Genomics England Research A1 Wilson, Ian J. A1 Sayer, John A. PB Hindawi Limited YR 2021 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 42 IS 10 SP 1221 OP 1228 LK http://dx.doi.org/https://doi.org/10.1002/humu.24251 DO https://doi.org/10.1002/humu.24251 SF ELIB - SuUB Bremen
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