Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Hepatomegaly and PHKA2[original query] |
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PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. BMC medical genetics 2016 17 33. Choi Rihwa, Park Hyung-Doo, Kang Ben, Choi So Yoon, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Song Junghan, Choe Yon |
A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia. JIMD reports 2019 8 48 (1): 15-18. Ago Yasuhiko, Sugie Hideo, Fukuda Tokiko, Otsuka Hiroki, Sasai Hideo, Nakama Mina, Abdelkreem Elsayed, Fukao Toshiyu |
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- Page last updated:Apr 16, 2024
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