Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9949209	Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a regi	1.49 KB	2015-11-27	25	12	-
PubMed	9427148	Aspartylglucosaminuria among Palestinian Arabs. Aspartylglucosaminuria (AGU) is a rare disorder of g	843 Bytes	2015-11-27	32	5	-
PubMed	9382108	Risk reversals in predictive testing for Huntington disease. The first predictive testing for Huntin	1 KB	2015-03-12	29	5	-
PubMed	9603435	W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A	1.9 KB	2015-11-27	34	6	-
PubMed	9852676	Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibr	1.25 KB	2015-03-12	23	10	-
PubMed	9724771	The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a fami	1.69 KB	2015-11-27	27	18	-
PubMed	9668171	Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age de	1.55 KB	2015-11-27	25	6	-
PubMed	9506545	Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. W	1.26 KB	2015-11-27	25	17	-
PubMed	9391879	Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. In this study	923 Bytes	2015-11-27	24	5	-
PubMed	9790667	A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splici	1.58 KB	2015-11-27	32	4	-