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Updated: May 12, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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

Published on: January 16, 2019

長いQT症候群における遺伝子型-現象型相関:生命を脅かす不律律症の遺伝子特有のトリガー

P J Schwartz1, S G Priori, C Spazzolini

  • 1Department of Cardiology, Policlinico S. Matteo IRCCS and University of Pavia, Pavia, Italy. PJQT@compuserve.com

Circulation
|January 4, 2001
PubMed
まとめ

生まれながらの長QT症候群 (LQTS) の心臓イベントは遺伝子特異的です. 運動や休息のようなこれらのトリガーを理解することで,長QT症候群の患者の管理と治療を改善できます.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

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