JAMES LUPSKI to Intestinal Pseudo-Obstruction
This is a "connection" page, showing publications JAMES LUPSKI has written about Intestinal Pseudo-Obstruction.
Connection Strength
0.447
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.157
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Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 Jul 06; 101(1):123-129.
Score: 0.132
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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3):e1004258.
Score: 0.106
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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004 Feb; 41(2):125-9.
Score: 0.052