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MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclass..:
Alsubaie, Lamia
;
Alkhalaf, Randa
;
Aloraini, Taghrid
...
Annals of Human Genetics. 84 (2020) 5 - p. 370-379 , 2020
Link:
https://doi.org/10.1111/ahg.12385
RT Journal T1
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_ahg.12385&Exemplar=1&LAN=DE A1 Alsubaie, Lamia A1 Alkhalaf, Randa A1 Aloraini, Taghrid A1 Amoudi, Manal A1 Swaid, Abdulrahman A1 Al Mutairi, Fuad A1 Alfadhel, Majid A1 Eyaid1, Wafaa A1 Sewairi, Wafaa A1 Alfares, Ahmed PB Wiley YR 2020 SN 0003-4800 SN 1469-1809 JF Annals of Human Genetics VO 84 IS 5 SP 370 OP 379 LK http://dx.doi.org/https://doi.org/10.1111/ahg.12385 DO https://doi.org/10.1111/ahg.12385 SF ELIB - SuUB Bremen
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