相关实验视频

Updated: Jun 29, 2025

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

11.0K

与QT间隔相关的SCN5A增强剂变体的功能性表征识别了组合的添加效应

Lavanya Gunamalai, Parul Singh, Brian Berg

    bioRxiv : the preprint server for biology
    |April 1, 2024
    PubMed
    概括

    多个SCN5A增强剂及其变体集体调节心脏基因表达. 这项研究确定了驱动这些增强剂的转录因子,并证明了变异的附加效应,影响人口中的QT间隔.

    更多相关视频

    Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes11:33

    Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

    Published on: March 12, 2013

    13.4K
    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

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

    Published on: August 20, 2019

    13.6K

    相关概念视频

    Multiple Allele Traits01:49

    Multiple Allele Traits

    The Concept of Multiple Allelism
    34.2K