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A rare variant in the TTR gene (p.E112K) is associated with..:
Olga S. Chumakova
;
Svetlana N. Nasonova
;
Yulia V. Frolova
...
https://ter-arkhiv.ru/0040-3660/article/viewFile/472052/125352. , 2023
Link:
https://doi.org/10.26442/00403660.2023.04.202160
RT Journal T1
A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:fecf7548b13245a8b80d787b1192c960&Exemplar=1&LAN=DE A1 Olga S. Chumakova A1 Svetlana N. Nasonova A1 Yulia V. Frolova A1 Elena A. Stepanova A1 Elena A. Mershina A1 Valentin E. Sinitsyn A1 Dmitry A. Zateyshchikov A1 Igor V. Zhirov PB Consilium Medicum" Publishing house YR 2023 K1 amyloidosis K1 transthyretin K1 hereditary K1 pathogenicity K1 variant K1 p.e112k K1 gene K1 cosegregation K1 phenotype K1 ethanol K1 Medicine K1 R JF https://ter-arkhiv.ru/0040-3660/article/viewFile/472052/125352 LK http://dx.doi.org/https://doi.org/10.26442/00403660.2023.04.202160 DO https://doi.org/10.26442/00403660.2023.04.202160 SF ELIB - SuUB Bremen
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