Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	523196	Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of	1.83 KB	2015-03-12	15	3	-
PubMed	9450866	Piebaldism with deafness: molecular evidence for an expanded syndrome. In a South African girl of Xh	732 Bytes	2015-11-27	32	0	-
PubMed	8098245	Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification o	1.07 KB	2015-11-27	15	2	-
PubMed	1709636	A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant o	1.05 KB	2017-09-11	39	0	-
PubMed	492812	Recurrent meningococcal meningitis with absence of the sixth component of complement: an evaluation	883 Bytes	2015-03-12	14	3	-
PubMed	8104633	An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystro	1.35 KB	2015-03-12	15	0	-
PubMed	9888390	Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachro	1.83 KB	2015-11-27	32	0	-
PubMed	7479827	Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing car	1.46 KB	2015-11-27	17	2	-
PubMed	1351034	Loss of normal allele of the APC gene in an adrenocortical carcinoma from a patient with familial ad	940 Bytes	2015-11-18	18	1	-
PubMed	7191069	Heterozygous C2-deficiency and myasthenia gravis. Complement deficiency states in myasthenia gravis	282 Bytes	2015-12-07	16	0	-