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PubMed 21194947 Variable phenotypes are associated with PMP22 missense mutations. Charcot-Marie-Tooth disease (CMT) 21 0 show
PubMed 20598714 N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V o 21 0 show
PubMed 21190448 Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. BA 20 0 show
PubMed 21564178 New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. Netherton 20 0 show
PubMed 16730748 The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL 19 0 show
PubMed 21416598 AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. We describe a fami 19 0 show
PubMed 22001500 Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2. Rett syndrome (RTT 19 0 show
PubMed 23247051 Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generat 19 0 show
PubMed 16891820 Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three nove 18 0 show
PubMed 19358333 Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugad 18 0 show