AGAC_test

Documents (1,000) JSON TSV

source DB	source ID	text	# proj.
PubMed	21194947	Variable phenotypes are associated with PMP22 missense mutations. Charcot-Marie-Tooth disease (CMT)	21	show
PubMed	20598714	N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V o	21	show
PubMed	21190448	Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. BA	20	show
PubMed	21564178	New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. Netherton	20	show
PubMed	16730748	The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL	19	show
PubMed	21416598	AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. We describe a fami	19	show
PubMed	22001500	Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2. Rett syndrome (RTT	19	show
PubMed	23247051	Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generat	19	show
PubMed	16891820	Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three nove	18	show
PubMed	19358333	Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugad	18	show