Keywords: AAC; amino acid coding; AF; atrial fibrillation; BMI; body mass index; ECG; electrocardiogram; ESP; Exome Sequencing Project; GWAS; genome-wide association study; IQR; interquartile range; LVEDD; left ventricular end-diastolic diameter; LVEF; left ventric
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Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers
Keywords: ML-ll; Mucolipidosisll; ML-lll; Mucolipidosislll; SSI-3; Stuttering Severity Instrument version-3; ESP; Exome Sequencing Project; ExAC; Exome Aggregation Consortium; PCR; Polymerase Chain Reaction; Non-syndromic stuttering; GNPTAB; GNPTG; NAGPA; Bioinform
Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population
Keywords: AFDS; Amish Family Diabetes Study; CPE; carboxypeptidase E; ExAC; Exome Aggregation Consortium; ESP; Exome Sequencing Project; GERP; genomic evolutionary rate profiling; IGT; impaired glucose tolerance; MAF; minor allele frequency; NGT; normal glucose tol
Research paperNovel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis
Keywords: AFAP; attenuated familial adenomatous polyposis; APC; adenomatous polyposis coli; CFAP; classical FAP; CHRPE; congenital hypertrophy of the retinal pigment epithelium; ESP; Exome Sequencing Project; ExAC; Exome Aggregation Consortium; FAP; familial adenom
The two-pore domain potassium channel, TWIK-1, has a role in the regulation of heart rate and atrial size
Keywords: AF; atrial fibrillation; bpm; beats per minute; ESP; Exome Sequencing Project; ExAC; Exome Aggregation Consortium; hpf; hours post fertilization; K+; Â potassium; K2P; two-pore domain K+ channels; MAF; minor allele frequency; MDCK; Madin-Darby canine kidn
The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT
Keywords: APD; Action potential duration; APD90; APD at 90% repolarization; DNA; Deoxyribonucleic acid; cDNA; Cyclic DNA; ECG; Electrocardiogram; ESP; Exome Sequencing Project; HEK293; Human-derived renal epithelial cell line number 293; hERG; Human ether-Ã -go-go
Synonymous ABCA3 Variants Do Not Increase Risk for Neonatal Respiratory Distress Syndrome
Keywords: ABCA3; Adenosine triphosphate-binding cassette A3 transporter; ESP; Exome Sequencing Project; MAF; Minor allele frequency; RDS; Respiratory distress syndrome;