Test-SequenceVariant  

Documents (100) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 14510914 Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. OBJECTIVE: Iodide transport defect (ITD) is a rare disorder characterised by an inability of the thyroid to main 1.88 KB 2015-11-18 30 1 2021-12-23
PubMed 15041272 A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were st 1.53 KB 2015-11-18 34 4 2021-12-23
PubMed 15099351 Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholeste 1.09 KB 2015-11-18 11 5 2021-12-23
PubMed 15122708 Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologi 1.53 KB 2015-11-18 10 0 2021-12-23
PubMed 15188772 Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catech 830 Bytes 2017-09-04 9 0 2021-12-23
PubMed 15614572 Effects of the antidepressant trazodone, a 5-HT 2A/2C receptor antagonist, on dopamine-dependent behaviors in rats. RATIONALE: 5-Hydroxytryptamine, via stimulation of 5-HT 2C receptors, exerts a tonic 1.92 KB 2015-11-22 7 0 2021-12-23
PubMed 15623763 TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. PURPOSE: To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or gr 1.89 KB 2015-11-18 12 14 2021-12-23
PubMed 15818664 Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracel 2.28 KB 2015-11-19 10 0 2021-12-23
PubMed 15824163 No Evidence for BRAF as a melanoma/nevus susceptibility gene. Somatic mutations of BRAF have been identified in both melanoma tumors and benign nevi. Germ line mutations in BRAF have not been identifi 1.75 KB 2025-10-02 14 1 2021-12-23
PubMed 15970799 Functional characterization of SLCO1B1 (OATP-C) variants, SLCO1B1*5, SLCO1B1*15 and SLCO1B1*15+C1007G, by using transient expression systems of HeLa and HEK293 cells. OBJECTIVES: SLCO1B1*5 and SLCO1B1 1.97 KB 2015-11-22 7 10 2021-12-23