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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 4, 2023. (Total: 223640Documents)
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Query Trace: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome[original query]
Mutation in Actin ?-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.
Journal of pediatric gastroenterology and nutrition 2016 Mar .
Lu Wei, Xiao Yongtao, Wang Jianhu, Tao Yejing, Yan Weihui, Lu Lina, Cao Yi, Cai W
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Human mutation 2019 11 41 (3): 641-654.
Assia Batzir Nurit, Kishor Bhagwat Pranjali, Larson Austin, Coban Akdemir Zeynep, Bag?aj Maciej, Bofferding Leon, Bosanko Katherine B, Bouassida Skander, Callewaert Bert, Cannon Ashley, Enchautegui Colon Yazmin, Garnica Adolfo D, Harr Margaret H, Heck Sandra, Hurst Anna C E, Jhangiani Shalini N, Isidor Bertrand, Littlejohn Rebecca O, Liu Pengfei, Magoulas Pilar, Mar Fan Helen, Marom Ronit, McLean Scott, Nezarati Marjan M, Nugent Kimberly M, Petersen Michael B, Rocha Maria L, Roeder Elizabeth, Smigiel Robert, Tully Ian, Weisfeld-Adams James, Wells Katerina O, , Posey Jennifer E, Lupski James R, Beaudet Arthur L, Wangler Michael
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