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Case Report: A novel PHOX2B p.Ala248_Ala266dup variant caus..:
Irina N. Artamonova
;
Anna M. Zlotina
;
Olga R. Ismagilova
...
https://www.frontiersin.org/articles/10.3389/fped.2022.1070303/full. , 2023
Link:
https://doi.org/10.3389/fped.2022.1070303
RT Journal T1
Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:f0990813c2d842c782f7b82dfa2399d0&Exemplar=1&LAN=DE A1 Irina N. Artamonova A1 Anna M. Zlotina A1 Olga R. Ismagilova A1 Tatyana A. Levko A1 Natalia Yu Kolbina A1 Aleksandr V. Bryzzhin A1 Andrey P. Smorodin A1 Alexandr V. Borodin A1 Ekaterina A. Mamaeva A1 Anna A. Sukhotskaya A1 Ilya M. Kagantsov A1 Daria A. Malysheva A1 Elena S. Vasichkina A1 Tatiana M. Pervunina A1 Natalia A. Petrova PB Frontiers Media S.A. YR 2023 K1 genotype–phenotype correlation K1 congenital central hypoventilation syndrome (CCHS) K1 PHOX2B K1 novel mutation K1 Hirschsprung disease K1 polyalanine sequence K1 Pediatrics K1 RJ1-570 JF https://www.frontiersin.org/articles/10.3389/fped.2022.1070303/full LK http://dx.doi.org/https://doi.org/10.3389/fped.2022.1070303 DO https://doi.org/10.3389/fped.2022.1070303 SF ELIB - SuUB Bremen
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