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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Clin Genet. 2013 May;83(5):457-461. doi: 10.1111/j.1399-0004.2012.01951.x. Epub 2012 Sep 11.
Clin Genet. 2013.
PMID: 22901280
Free PMC article.
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA.
Gonzaga-Jauregui C, et al.
J Pediatr Gastroenterol Nutr. 2014 Jul;59(1):17-21. doi: 10.1097/MPG.0000000000000363.
J Pediatr Gastroenterol Nutr. 2014.
PMID: 24614124
Free PMC article.
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