Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9443866	Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in e	1.25 KB	2015-11-27	25	4	-
PubMed	9448273	The von Hippel-Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal. T	1.4 KB	2015-11-27	25	18	-
PubMed	9450866	Piebaldism with deafness: molecular evidence for an expanded syndrome. In a South African girl of Xh	732 Bytes	2015-11-27	32	9	-
PubMed	9457913	Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-s	1.92 KB	2015-11-28	28	5	-
PubMed	9457914	A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermoly	1.61 KB	2015-11-27	25	4	-
PubMed	9463309	The haptoglobin-gene deletion responsible for anhaptoglobinemia. We have found an allelic deletion o	1.85 KB	2015-12-06	23	8	-
PubMed	9463314	ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of m	1.35 KB	2015-11-27	33	12	-
PubMed	9463318	The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the la	1.2 KB	2015-11-27	25	3	-
PubMed	9465039	The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for	1.96 KB	2015-03-12	25	3	-
PubMed	9465301	Genomic organization of the UBE3A/E6-AP gene and related pseudogenes. The UBE3A gene encodes the E6-	926 Bytes	2015-03-12	23	1	-