Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
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DOI: 10.1038/s41439-021-00171-9
Abstract: In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral… read more here.
Keywords: syndrome cases; micro syndrome; warburg micro; two novel ... See more keywords
Conveyance Contact Investigation for Imported Middle East Respiratory Syndrome Cases, United States, May 2014
Sign Up to like & getrecommendations! Published in 2017 at "Emerging Infectious Diseases"
DOI: 10.3201/eid2309.170365
Abstract: In 2014, the Centers for Disease Control and Prevention conducted conveyance contact investigations for 2 Middle East respiratory syndrome cases imported into the United States, comprising all passengers and crew on 4 international and domestic… read more here.
Keywords: respiratory syndrome; syndrome cases; middle east; east respiratory ... See more keywords