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Updated: Jun 22, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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在一个跨人群研究中,KCNJ2的罕见变异与LDL胆固醇水平有关

Niccolò Rossi1, Najeeb Syed2, Alessia Visconti1,3

  • 1Department of Twin Research & Genetic Epidemiology, King's College London, London, UK.

NPJ genomic medicine
|June 28, 2024
PubMed
概括

与酸味相关的罕见基因变异 (KCNJ2) 与较低的LDL胆固醇和减少的反式脂肪摄入量有关. 这一发现为心血管疾病风险因素提供了新的遗传洞察力.

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Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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