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Novel variants in human and monkey CETP
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2005Variation in CETP has been shown to play an important role in HDL-C levels and cardiovascular disease. To better characterize this variation, the promoter and exonic DNA for CETP was resequenced in 189 individuals with extreme HDL-C or age. Two novel amino acid variants were found in humans (V-12D and Y361C) and an additional variant (R137W) not ...
David B, Lloyd +7 more
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Novel causative variants in patients with achromatopsia
Ophthalmic Genetics, 2018To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM).Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS).Three novel homozygous variants were detected in CNGA3: a missense c.967G > C ...
Ehab Abdelkader +5 more
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Novel rat calpastatin mRNA variants.
Biochemistry and molecular biology international, 1993Rat calpastatin cDNAs obtained by RT-PCR method were isolated and directly sequenced; this allowed the identification of two new variants both characterized by a 23 amino acids deletion at the end of the unique N-terminal domain L, increasing the number of functional isoforms.
A, Servadio, G, Casari
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Novel genetic variant in hereditary spastic paraparesis
BMJ Case ReportsA man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history.
Kathryn A W Knight +3 more
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Evidence of escape of SARS-CoV-2 variant B.1.351 from natural and vaccine-induced sera
Cell, 2021Daming Zhou +2 more
exaly
Reduced neutralization of SARS-CoV-2 B.1.1.7 variant by convalescent and vaccine sera
Cell, 2021Daming Zhou +2 more
exaly
Transmission, infectivity, and neutralization of a spike L452R SARS-CoV-2 variant
Cell, 2021Xianding Deng +2 more
exaly
Early introductions and transmission of SARS-CoV-2 variant B.1.1.7 in the United States
Cell, 2021Tara Alpert +2 more
exaly
Haemoglobin Graz, a novel haemoglobin variant
Diabetologia, 1995W J, Schnedl +6 more
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