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Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications.

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Title: Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications.
Authors: Yiallouros, Panayiotis K.1,2 (AUTHOR) pyiall01@ucy.ac.cy, Anagnostopoulou, Pinelopi1,2 (AUTHOR) anagnostopoulou.pinelopi@ucy.ac.cy, Kouis, Panayiotis1 (AUTHOR) kouis.panayiotis@ucy.ac.cy, Matthaiou, Andreas Μ.1 (AUTHOR) matthaiou.andreas@ucy.ac.cy, Adamidi, Tonia3 (AUTHOR) tadamide@yahoo.gr, Ioannou, Phivos2 (AUTHOR) phiv.ioannou@gmail.com, Christopoulos, George4 (AUTHOR) gchrist@cing.ac.cy, Costi, Constantina5 (AUTHOR) harry@cing.ac.cy, Phylactou, Leonidas A.5 (AUTHOR) laphylac@cing.ac.cy, Fanis, Pavlos5 (AUTHOR) pavlosf@cing.ac.cy, Neocleous, Vassos5 (AUTHOR) vassosn@cing.ac.cy
Source: Orphanet Journal of Rare Diseases. 4/29/2025, Vol. 20 Issue 1, p1-9. 9p.
Database: Academic Search Ultimate
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ISSN:17501172
DOI:10.1186/s13023-025-03714-3