id	author	title	date	pages	extension	mime	words	sentence	flesch	summary	cache	txt
nc580k25k9s	Joseph Farris	Genotype-Phenotype Predictions in Rare Genetic Diseases: The Relationship between Glycine Decarboxylase Mutations and Non-Ketotic Hyperglycinemia Severity	2021		.txt	text/plain	341	13	44	The hundreds of mutations in GLDC that give rise to NKH disease, present a unique system to investigate how these mutations underlie NKH, as well as provide models for a broader understanding of functional annotation of mutations in hundreds of monogenic disorders at cellular and organismal levels. Monogenic defects that alter metabolism may cause complex pathological states including neurological diseases that show a wide range of symptoms such as, seizures, epilepsy, neuropathy, cerebral defects and movement disorders.	cache/nc580k25k9s.txt	txt/nc580k25k9s.txt