Matches in Nanopublications for { ?s ?p "[Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion description "[Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance.
- NP643181.RATmDn4w3EJFYNKo6qWYboeG-OYC0uvsPkjQh2gLkcxQQ130_assertion description "[Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP643181.RATmDn4w3EJFYNKo6qWYboeG-OYC0uvsPkjQh2gLkcxQQ130_provenance.