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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 4, 2023. (Total: 217641Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Abnormalities and ABCC6[original query]
Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks.
Biochemical and biophysical research communications 2009 Mar 380 (3): 548-53.
Sato Naoyuki, Nakayama Tomohiro, Mizutani Yoshihiro, Yuzawa Mitsu
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6.
Genetics in medicine : official journal of the American College of Medical Genetics 2009 Dec 11 (12): 852-8.
Plomp Astrid S, Bergen Arthur A B, Florijn Ralph J, Terry Sharon F, Toonstra Johan, van Dijk Marijke R, de Jong Paulus T V
Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus.
Frontiers in cardiovascular medicine 2022 12 9 1048795.
Peng Yongxuan, Ye Jiajun, Xu Yuejuan, Huang Jihong, Wu Yurong, Liu Wei, Bai Kai, Chen Sun, Lu Yan
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