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American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2013, Volume 161, Issue 9, pp. 2244 - 2249
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, p. 541
  Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated genes in the human genome, is an ideal approach to studying fully... 
Proteins | Genetic disorders | Zebrafish | Genomes | Gene loci | Mutation
Journal Article
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2005, Volume 32, Issue 2, pp. 134 - 136
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2014, Volume 164, Issue 3, pp. 553 - 559.e2
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2005, Volume 133A, Issue 1, pp. 53 - 57
Journal Article
JIMD Reports, ISSN 2192-8304, 2016, Volume 29, pp. 39 - 46
Defects in the human gene encoding methylmalonyl-CoA mutase enzyme (MCM) give rise to a rare autosomal recessive inherited disorder of propionate metabolism... 
Saudi Arabia | Saudi Population | Urine Organic Acid | Recurrent Pancreatitis | Methylmalonic Acidemia
Journal Article
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